Canonical Allele Identifier: CA346923

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 88946
• ClinVar RCV Id: RCV000190906 ; RCV001058987
• dbSNP Id: rs146519482
• gnomAD v4: 6-26091475-G-T
• MyVariant Identifiers: chr6:g.26091703G>T (hg19) ; chr6:g.26091475G>T (hg38)
• PubMed: PMID:10930379 ; PMID:20301613

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26091475G>T , CM000668.2:g.26091475G>T	GRCh38
NC_000006.11:g.26091703G>T , CM000668.1:g.26091703G>T	GRCh37
NC_000006.10:g.26199682G>T	NCBI36
NG_008720.2:g.9195G>T , LRG_748:g.9195G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000485729.2:c.502G>T (HFE)	ENSP00000417534.2:p.Glu168Ter
ENST00000707188.1:c.391-441C>A (H2BC4)	ENSP00000516775.1:n.391-441C>A
ENST00000357618.10:c.502G>T (HFE) MANE Select	ENSP00000417404.1:p.Glu168Ter
ENST00000309234.10:c.502G>T (HFE)	ENSP00000311698.6:p.Glu168Ter
ENST00000317896.11:c.340+371G>T (HFE)	ENSP00000313776.7:n.340+371G>T
ENST00000336625.12:c.340+371G>T (HFE)	ENSP00000337819.8:n.340+371G>T
ENST00000349999.8:c.238G>T (HFE)	ENSP00000259699.6:p.Glu80Ter
ENST00000352392.8:c.77-1644G>T (HFE)	ENSP00000315936.4:n.77-1644G>T
ENST00000353147.9:c.77-1210G>T (HFE)	ENSP00000312342.5:n.77-1210G>T
ENST00000357618.9:c.502G>T (HFE)	ENSP00000417404.1:p.Glu168Ter
ENST00000397022.7:c.433G>T (HFE)	ENSP00000380217.3:p.Glu145Ter
ENST00000461397.5:c.502G>T (HFE)	ENSP00000420802.1:p.Glu168Ter
ENST00000470149.5:c.502G>T (HFE)	ENSP00000419725.1:p.Glu168Ter
ENST00000483782.1:n.833G>T (HFE)
ENST00000486147.1:n.383+371G>T (HFE)
ENST00000488199.5:c.238G>T (HFE)	ENSP00000420559.1:p.Glu80Ter
ENST00000629531.1:c.132+32298C>A (H2BC3)	ENSP00000486472.1:n.132+32298C>A
NM_000410.3:c.502G>T , LRG_748t1:c.502G>T (HFE)	NP_000401.1:p.Glu168Ter
NM_001300749.1:c.502G>T (HFE)	NP_001287678.1:p.Glu168Ter
NM_139003.2:c.340+371G>T (HFE)	NP_620572.1:n.340+371G>T
NM_139004.2:c.340+371G>T (HFE)	NP_620573.1:n.340+371G>T
NM_139006.2:c.502G>T (HFE)	NP_620575.1:p.Glu168Ter
NM_139007.2:c.238G>T (HFE)	NP_620576.1:p.Glu80Ter
NM_139008.2:c.238G>T (HFE)	NP_620577.1:p.Glu80Ter
NM_139009.2:c.433G>T (HFE)	NP_620578.1:p.Glu145Ter
NM_139010.2:c.77-1210G>T (HFE)	NP_620579.1:n.77-1210G>T
NM_139011.2:c.77-1644G>T (HFE)	NP_620580.1:n.77-1644G>T
XM_011514543.1:c.502G>T (HFE)	XP_011512845.1:p.Glu168Ter
XM_011514544.1:c.502G>T (HFE)	XP_011512846.1:p.Glu168Ter
XR_241893.2:n.624G>T (HFE)
XM_011514543.3:c.502G>T (HFE)	XP_011512845.1:p.Glu168Ter
XR_241893.4:n.596G>T (HFE)
NM_001300749.2:c.502G>T (HFE)	NP_001287678.1:p.Glu168Ter
NM_139003.3:c.340+371G>T (HFE)	NP_620572.1:n.340+371G>T
NM_139004.3:c.340+371G>T (HFE)	NP_620573.1:n.340+371G>T
NM_139006.3:c.502G>T (HFE)	NP_620575.1:p.Glu168Ter
NM_139007.3:c.238G>T (HFE)	NP_620576.1:p.Glu80Ter
NM_139008.3:c.238G>T (HFE)	NP_620577.1:p.Glu80Ter
NM_139009.3:c.433G>T (HFE)	NP_620578.1:p.Glu145Ter
NM_139010.3:c.77-1210G>T (HFE)	NP_620579.1:n.77-1210G>T
NM_139011.3:c.77-1644G>T (HFE)	NP_620580.1:n.77-1644G>T
NM_000410.4:c.502G>T (HFE) MANE Select	NP_000401.1:p.Glu168Ter
NM_001384164.1:c.502G>T (HFE)	NP_001371093.1:p.Glu168Ter