EnsemblEnsembl Home
Human (GRCh37.p13)
Description

hemochromatosis [Source:HGNC Symbol;Acc:4886]

Gene Synonyms

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

Location
About this transcript

This transcript has 5 exons, is associated with 2134 variant alleles and maps to 928 oligo probes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
HFE-001ENST00000357618.55286348aaENSP00000417404.1
 
Protein coding
CCDS4578F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA60
I1VA63 I1VA66 I1VA72
Q30201 Q86WL1 Q8MH46
Q9BXI5 Q9UK37
NM_000410
NM_139006
NP_000401
NP_620575
GENCODE basic
HFE-006ENST00000317896.71922256aaENSP00000313776.7
 
Protein coding
CCDS4579F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA60
I1VA63 I1VA66 Q30201
Q8MH46 Q9BXI5 Q9UK37
NM_139003
NM_139004
NP_620572
NP_620573
GENCODE basic
HFE-004ENST00000349999.41704260aaENSP00000259699.6
 
Protein coding
CCDS4580G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA60 I1VA63
I1VA66 I1VA72 Q30201
Q8MH46 Q9BXI5 Q9UK37
NM_139007
NM_139008
NP_620576
NP_620577
GENCODE basic
HFE-005ENST00000397022.31280325aaENSP00000380217.3
 
Protein coding
CCDS47387G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA55 I1VA56
I1VA60 I1VA63 I1VA66
I1VA72 Q30201 Q86WL1
Q8MH46 Q9BXI5 Q9UK37
NM_139009
NP_620578
GENCODE basic
HFE-014ENST00000461397.11045334aaENSP00000420802.1
 
Protein coding
CCDS54974F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA72
Q30201
-GENCODE basic
HFE-007ENST00000353147.5809168aaENSP00000312342.5
 
Protein coding
CCDS4581G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA60 I1VA63
I1VA66 Q30201 Q8MH46
Q9BXI5 Q9UK37
NM_139010
NP_620579
GENCODE basic
HFE-012ENST00000336625.8804242aaENSP00000337819.8
 
Protein coding
CCDS47386F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 Q30201
-GENCODE basic
HFE-015ENST00000488199.1781246aaENSP00000420559.1
 
Protein coding
CCDS54975G3LGQ9 G3LGR0 G3LGR1
H2E8T5 I1VA72 Q30201
-GENCODE basic
HFE-003ENST00000352392.465376aaENSP00000315936.4
 
Protein coding
CCDS4582H2E8T5 Q30201 NM_139011
NP_620580
GENCODE basic
HFE-019ENST00000309234.61158337aaENSP00000311698.6
 
Protein coding
-F5B2M9 F8W7W8 G3LGQ6
H2E8T5 I1VA55 I1VA56
I1VA60 I1VA63 I1VA66
I1VA72 Q8MH46 Q9BXI5
Q9UK37
-GENCODE basic
HFE-011ENST00000470149.11123345aaENSP00000419725.1
 
Protein coding
-F5B2M9 G3LGQ6 G3LGQ9
G3LGR0 G3LGR1 H2E8T5
I1VA55 I1VA56 I1VA72
Q6B0J5
-GENCODE basic
HFE-024ENST00000485729.177755aaENSP00000417534.1
 
Protein coding
-H7C4K4 -CDS 5' incomplete
HFE-017ENST00000483782.11245No protein-
 
Retained intron
----
HFE-013ENST00000486147.1987No protein-
 
Retained intron
----
Statistics

Exons: 5, Coding exons: 0, Transcript length: 987 bps,

Version

ENST00000486147.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000356201 (version 1)

Transcript-based displays