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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 6 exons, is annotated with 21 domains and features, is associated with 3194 variant alleles and maps to 1364 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: 6, Coding exons: 6, Transcript length: 5,286 bps, Translation length: 348 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS4578

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q30201

Version

ENST00000357618.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000356133 (version 1)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays