Human (GRCh37.p13)
Description

hemochromatosis [Source:HGNC Symbol;Acc:4886]

Gene Synonyms

HFE1, HH, HLA-H, HLAH, MVCD7, TFQTL2

Location

Chromosome 6: 26,087,509-26,098,571 forward strand.

GRCh37:CM000668.1

About this gene

This gene has 14 transcripts (splice variants), 9 paralogues and is associated with 10 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000357618.5HFE-0015286348aaENSP00000417404.1
 
Protein coding
CCDS4578F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA60
I1VA63 I1VA66 I1VA72
Q30201 Q86WL1 Q8MH46
Q9BXI5 Q9UK37
NM_139006.2GENCODE basic
ENST00000317896.7HFE-0061922256aaENSP00000313776.7
 
Protein coding
CCDS4579F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA60
I1VA63 I1VA66 Q30201
Q8MH46 Q9BXI5 Q9UK37
NM_139004.2GENCODE basic
ENST00000349999.4HFE-0041704260aaENSP00000259699.6
 
Protein coding
CCDS4580G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA60 I1VA63
I1VA66 I1VA72 Q30201
Q8MH46 Q9BXI5 Q9UK37
NM_139008.2GENCODE basic
ENST00000397022.3HFE-0051280325aaENSP00000380217.3
 
Protein coding
CCDS47387G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA55 I1VA56
I1VA60 I1VA63 I1VA66
I1VA72 Q30201 Q86WL1
Q8MH46 Q9BXI5 Q9UK37
NM_139009.2GENCODE basic
ENST00000309234.6HFE-0191158337aaENSP00000311698.6
 
Protein coding
F5B2M9 F8W7W8 G3LGQ6
H2E8T5 I1VA55 I1VA56
I1VA60 I1VA63 I1VA66
I1VA72 Q8MH46 Q9BXI5
Q9UK37
-GENCODE basic
ENST00000470149.1HFE-0111123345aaENSP00000419725.1
 
Protein coding
F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA72
Q6B0J5
-GENCODE basic
ENST00000461397.1HFE-0141045334aaENSP00000420802.1
 
Protein coding
CCDS54974F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA72
Q30201
-GENCODE basic
ENST00000353147.5HFE-007809168aaENSP00000312342.5
 
Protein coding
CCDS4581G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA60 I1VA63
I1VA66 Q30201 Q8MH46
Q9BXI5 Q9UK37
NM_139010.2GENCODE basic
ENST00000336625.8HFE-012804242aaENSP00000337819.8
 
Protein coding
CCDS47386F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 Q30201
-GENCODE basic
ENST00000488199.1HFE-015781246aaENSP00000420559.1
 
Protein coding
CCDS54975G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA72 Q30201
-GENCODE basic
ENST00000485729.1HFE-02477755aaENSP00000417534.1
 
Protein coding
H7C4K4 -CDS 5' incomplete
ENST00000352392.4HFE-00365376aaENSP00000315936.4
 
Protein coding
CCDS4582H2E8T5 Q30201 NM_139011.2GENCODE basic
ENST00000483782.1HFE-0171245No protein-
 
Retained intron
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ENST00000486147.1HFE-013987No protein-
 
Retained intron
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