Canonical Allele Identifier: CA136293516

Gene: HFE H2BC4 H2BC3

Linked Data

• dbSNP Id: rs111033558
• gnomAD v4: 6-26093215-G-C
• MyVariant Identifiers: chr6:g.26093443G>C (hg19) ; chr6:g.26093215G>C (hg38)
• PubMed: PMID:10401000

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26093215G>C , CM000668.2:g.26093215G>C	GRCh38
NC_000006.11:g.26093443G>C , CM000668.1:g.26093443G>C	GRCh37
NC_000006.10:g.26201422G>C	NCBI36
NG_008720.2:g.10935G>C , LRG_748:g.10935G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000485729.2:c.989G>C (HFE)	ENSP00000417534.2:p.Arg330Thr
ENST00000707188.1:c.391-2181C>G (H2BC4)	ENSP00000516775.1:n.391-2181C>G
ENST00000357618.10:c.989G>C (HFE) MANE Select	ENSP00000417404.1:p.Arg330Thr
ENST00000309234.10:c.989G>C (HFE)	ENSP00000311698.6:p.Arg330Thr
ENST00000317896.11:c.713G>C (HFE)	ENSP00000313776.7:p.Arg238Thr
ENST00000336625.12:c.671G>C (HFE)	ENSP00000337819.8:p.Arg224Thr
ENST00000349999.8:c.725G>C (HFE)	ENSP00000259699.6:p.Arg242Thr
ENST00000352392.8:c.173G>C (HFE)	ENSP00000315936.4:p.Arg58Thr
ENST00000353147.9:c.449G>C (HFE)	ENSP00000312342.5:p.Arg150Thr
ENST00000357618.9:c.989G>C (HFE)	ENSP00000417404.1:p.Arg330Thr
ENST00000397022.7:c.920G>C (HFE)	ENSP00000380217.3:p.Arg307Thr
ENST00000461397.5:c.947G>C (HFE)	ENSP00000420802.1:p.Arg316Thr
ENST00000470149.5:c.980G>C (HFE)	ENSP00000419725.1:p.Arg327Thr
ENST00000485729.1:c.110G>C (HFE)	ENSP00000417534.1:p.Arg37Thr
ENST00000486147.1:n.898G>C (HFE)
ENST00000488199.5:c.683G>C (HFE)	ENSP00000420559.1:p.Arg228Thr
ENST00000629531.1:c.132+30558C>G (H2BC3)	ENSP00000486472.1:n.132+30558C>G
NM_000410.3:c.989G>C , LRG_748t1:c.989G>C (HFE)	NP_000401.1:p.Arg330Thr
NM_001300749.1:c.989G>C (HFE)	NP_001287678.1:p.Arg330Thr
NM_139003.2:c.671G>C (HFE)	NP_620572.1:p.Arg224Thr
NM_139004.2:c.713G>C (HFE)	NP_620573.1:p.Arg238Thr
NM_139006.2:c.947G>C (HFE)	NP_620575.1:p.Arg316Thr
NM_139007.2:c.725G>C (HFE)	NP_620576.1:p.Arg242Thr
NM_139008.2:c.683G>C (HFE)	NP_620577.1:p.Arg228Thr
NM_139009.2:c.920G>C (HFE)	NP_620578.1:p.Arg307Thr
NM_139010.2:c.449G>C (HFE)	NP_620579.1:p.Arg150Thr
NM_139011.2:c.173G>C (HFE)	NP_620580.1:p.Arg58Thr
XM_011514543.1:c.989G>C (HFE)	XP_011512845.1:p.Arg330Thr
XM_011514544.1:c.980G>C (HFE)	XP_011512846.1:p.Arg327Thr
XM_011514543.3:c.989G>C (HFE)	XP_011512845.1:p.Arg330Thr
XR_241893.4:n.1149G>C (HFE)
NM_001300749.2:c.989G>C (HFE)	NP_001287678.1:p.Arg330Thr
NM_139003.3:c.671G>C (HFE)	NP_620572.1:p.Arg224Thr
NM_139004.3:c.713G>C (HFE)	NP_620573.1:p.Arg238Thr
NM_139006.3:c.947G>C (HFE)	NP_620575.1:p.Arg316Thr
NM_139007.3:c.725G>C (HFE)	NP_620576.1:p.Arg242Thr
NM_139008.3:c.683G>C (HFE)	NP_620577.1:p.Arg228Thr
NM_139009.3:c.920G>C (HFE)	NP_620578.1:p.Arg307Thr
NM_139010.3:c.449G>C (HFE)	NP_620579.1:p.Arg150Thr
NM_139011.3:c.173G>C (HFE)	NP_620580.1:p.Arg58Thr
NM_000410.4:c.989G>C (HFE) MANE Select	NP_000401.1:p.Arg330Thr
NM_001384164.1:c.989G>C (HFE)	NP_001371093.1:p.Arg330Thr