Description
hemochromatosis [Source:HGNC Symbol;Acc:4886]
Gene Synonyms
HFE1, HH, HLA-H, HLAH, MVCD7, TFQTL2
Location
Chromosome 6: 26,087,509-26,095,215 forward strand.
About this transcript
This transcript has 5 exons, is annotated with 19 domains and features, is associated with 3653 variant alleles and maps to 873 oligo probes.
Gene
This transcript is a product of gene ENSG00000010704.14 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000357618.5 | HFE-001 | 5286 | 348aa | ENSP00000417404.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4578 | F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q30201 Q86WL1 Q8MH46 Q9BXI5 Q9UK37 | NM_139006.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000317896.7 | HFE-006 | 1922 | 256aa | ENSP00000313776.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4579 | F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 Q30201 Q8MH46 Q9BXI5 Q9UK37 | NM_139004.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000349999.4 | HFE-004 | 1704 | 260aa | ENSP00000259699.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4580 | G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA60 I1VA63 I1VA66 I1VA72 Q30201 Q8MH46 Q9BXI5 Q9UK37 | NM_139008.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000397022.3 | HFE-005 | 1280 | 325aa | ENSP00000380217.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47387 | G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q30201 Q86WL1 Q8MH46 Q9BXI5 Q9UK37 | NM_139009.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000309234.6 | HFE-019 | 1158 | 337aa | ENSP00000311698.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5B2M9 F8W7W8 G3LGQ6 H2E8T5 I1VA55 I1VA56 I1VA60 I1VA63 I1VA66 I1VA72 Q8MH46 Q9BXI5 Q9UK37 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000470149.1 | HFE-011 | 1123 | 345aa | ENSP00000419725.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA72 Q6B0J5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000461397.1 | HFE-014 | 1045 | 334aa | ENSP00000420802.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54974 | F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 I1VA72 Q30201 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000353147.5 | HFE-007 | 809 | 168aa | ENSP00000312342.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4581 | G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA60 I1VA63 I1VA66 Q30201 Q8MH46 Q9BXI5 Q9UK37 | NM_139010.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000336625.8 | HFE-012 | 804 | 242aa | ENSP00000337819.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47386 | F5B2M9 G3LGQ6 G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA55 I1VA56 Q30201 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000488199.1 | HFE-015 | 781 | 246aa | ENSP00000420559.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54975 | G3LGQ9 G3LGR0 G3LGR1 H2E8T5 I1VA72 Q30201 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000485729.1 | HFE-024 | 777 | 55aa | ENSP00000417534.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C4K4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000352392.4 | HFE-003 | 653 | 76aa | ENSP00000315936.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4582 | H2E8T5 Q30201 | NM_139011.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000483782.1 | HFE-017 | 1245 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000486147.1 | HFE-013 | 987 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |