Canonical Allele Identifier: CA10623560

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 356208
• ClinVar RCV Id: RCV000331107 ; RCV002512084
• dbSNP Id: rs143278243
• gnomAD v2: 6-26095442-G-A
• gnomAD v3: 6-26095214-G-A
• gnomAD v4: 6-26095214-G-A
• MyVariant Identifiers: chr6:g.26095442G>A (hg19) ; chr6:g.26095214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26095214G>A , CM000668.2:g.26095214G>A	GRCh38
NC_000006.11:g.26095442G>A , CM000668.1:g.26095442G>A	GRCh37
NC_000006.10:g.26203421G>A	NCBI36
NG_008720.2:g.12934G>A , LRG_748:g.12934G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.*803G>A (HFE)	ENSP00000417534.2:n.*803G>A
ENST00000707188.1:c.391-4180C>T (H2BC4)	ENSP00000516775.1:n.391-4180C>T
ENST00000357618.10:c.*988G>A (HFE) MANE Select	ENSP00000417404.1:n.*988G>A
ENST00000317896.11:c.*988G>A (HFE)	ENSP00000313776.7:n.*988G>A
ENST00000357618.9:c.*988G>A (HFE)	ENSP00000417404.1:n.*988G>A
ENST00000629531.1:c.132+28559C>T (H2BC3)	ENSP00000486472.1:n.132+28559C>T
NM_000410.3:c.*988G>A , LRG_748t1:c.*988G>A (HFE)	NP_000401.1:n.*988G>A
NM_001300749.1:c.*803G>A (HFE)	NP_001287678.1:n.*803G>A
NM_139003.2:c.*988G>A (HFE)	NP_620572.1:n.*988G>A
NM_139004.2:c.*988G>A (HFE)	NP_620573.1:n.*988G>A
NM_139006.2:c.*988G>A (HFE)	NP_620575.1:n.*988G>A
NM_139007.2:c.*988G>A (HFE)	NP_620576.1:n.*988G>A
NM_139008.2:c.*988G>A (HFE)	NP_620577.1:n.*988G>A
NM_139009.2:c.*988G>A (HFE)	NP_620578.1:n.*988G>A
NM_139010.2:c.*988G>A (HFE)	NP_620579.1:n.*988G>A
NM_139011.2:c.*988G>A (HFE)	NP_620580.1:n.*988G>A
XM_011514543.1:c.*803G>A (HFE)	XP_011512845.1:n.*803G>A
XM_011514544.1:c.*988G>A (HFE)	XP_011512846.1:n.*988G>A
XM_011514543.3:c.*803G>A (HFE)	XP_011512845.1:n.*803G>A
NM_001300749.2:c.*803G>A (HFE)	NP_001287678.1:n.*803G>A
NM_139003.3:c.*988G>A (HFE)	NP_620572.1:n.*988G>A
NM_139004.3:c.*988G>A (HFE)	NP_620573.1:n.*988G>A
NM_139006.3:c.*988G>A (HFE)	NP_620575.1:n.*988G>A
NM_139007.3:c.*988G>A (HFE)	NP_620576.1:n.*988G>A
NM_139008.3:c.*988G>A (HFE)	NP_620577.1:n.*988G>A
NM_139009.3:c.*988G>A (HFE)	NP_620578.1:n.*988G>A
NM_139010.3:c.*988G>A (HFE)	NP_620579.1:n.*988G>A
NM_139011.3:c.*988G>A (HFE)	NP_620580.1:n.*988G>A
NM_000410.4:c.*988G>A (HFE) MANE Select	NP_000401.1:n.*988G>A
NM_001384164.1:c.*803G>A (HFE)	NP_001371093.1:n.*803G>A