Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Gene Synonyms
EBD1, EBDCT, EBR1
Location
Chromosome 3: 48,601,506-48,632,700 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 11 transcripts (splice variants), 17 paralogues and is associated with 21 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000328333.8 | COL7A1-001 | 9276 | 2944aa | ENSP00000332371.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2773 | Q02388 | NM_000094.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000454817.1 | COL7A1-201 | 9073 | 2912aa | ENSP00000412569.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q02388 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000422991.1 | COL7A1-003 | 597 | 173aa | ENSP00000391608.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JBL3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000470076.1 | COL7A1-007 | 651 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000487017.1 | COL7A1-002 | 5807 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000459756.1 | COL7A1-005 | 818 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000466591.1 | COL7A1-009 | 778 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000474432.1 | COL7A1-006 | 728 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000467985.1 | COL7A1-004 | 709 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000465238.1 | COL7A1-008 | 587 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000462475.1 | COL7A1-010 | 305 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
