Canonical Allele Identifier: CA113797
Gene: HFE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10
dbSNP Id: rs1799945

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26090951C>G , CM000668.2:g.26090951C>G GRCh38
NC_000006.11:g.26091179C>G , CM000668.1:g.26091179C>G GRCh37
NC_000006.10:g.26199158C>G NCBI36
NG_008720.2:g.8671C>G , LRG_748:g.8671C>G

Transcript Alleles

HGVS Amino-acid change
NM_000410.3:c.187C>G , LRG_748t1:c.187C>G NP_000401.1:p.His63Asp
NM_001300749.1:c.187C>G VV NP_001287678.1:p.His63Asp
NM_139003.2:c.187C>G VV NP_620572.1:p.His63Asp
NM_139004.2:c.187C>G VV NP_620573.1:p.His63Asp
NM_139006.2:c.187C>G VV NP_620575.1:p.His63Asp
NM_139007.2:c.77-363C>G VV NP_620576.1:p.=
NM_139008.2:c.77-363C>G VV NP_620577.1:p.=
NM_139009.2:c.118C>G VV NP_620578.1:p.His40Asp
NM_139010.2:c.77-1734C>G VV NP_620579.1:p.=
NM_139011.2:c.77-2168C>G VV NP_620580.1:p.=
XM_011514543.1:c.187C>G XP_011512845.1:p.His63Asp
XM_011514544.1:c.187C>G XP_011512846.1:p.His63Asp
XR_241893.2:n.309C>G
NR_144383.1:n.84G>C
XM_011514543.3:c.187C>G
XR_241893.4:n.281C>G
ENST00000309234.10:c.187C>G ENSP00000311698.6:p.His63Asp
ENST00000317896.11:c.187C>G ENSP00000313776.7:p.His63Asp
ENST00000336625.12:c.187C>G ENSP00000337819.8:p.His63Asp
ENST00000349999.8:c.77-363C>G ENSP00000259699.6:p.=
ENST00000352392.8:c.77-2168C>G ENSP00000315936.4:p.=
ENST00000353147.9:c.77-1734C>G ENSP00000312342.5:p.=
ENST00000357618.9:c.187C>G ENSP00000417404.1:p.His63Asp
ENST00000397022.7:c.118C>G ENSP00000380217.3:p.His40Asp
ENST00000461397.5:c.187C>G ENSP00000420802.1:p.His63Asp
ENST00000470149.5:c.187C>G ENSP00000419725.1:p.His63Asp
ENST00000483782.1:n.309C>G
ENST00000486147.1:n.230C>G
ENST00000488199.5:c.77-363C>G ENSP00000420559.1:p.=
ENST00000629531.1:n.132+32822G>C ENSP00000486472.1:p.=