Canonical Allele Identifier: CA113795
Gene: HFE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9
dbSNP Id: rs1800562

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26092913G>A , CM000668.2:g.26092913G>A GRCh38
NC_000006.11:g.26093141G>A , CM000668.1:g.26093141G>A GRCh37
NC_000006.10:g.26201120G>A NCBI36
NG_008720.2:g.10633G>A , LRG_748:g.10633G>A

Transcript Alleles

HGVS Amino-acid change
NM_000410.3:c.845G>A , LRG_748t1:c.845G>A NP_000401.1:p.Cys282Tyr
NM_001300749.1:c.845G>A VV NP_001287678.1:p.Cys282Tyr
NM_139003.2:c.527G>A VV NP_620572.1:p.Cys176Tyr
NM_139004.2:c.569G>A VV NP_620573.1:p.Cys190Tyr
NM_139006.2:c.803G>A VV NP_620575.1:p.Cys268Tyr
NM_139007.2:c.581G>A VV NP_620576.1:p.Cys194Tyr
NM_139008.2:c.539G>A VV NP_620577.1:p.Cys180Tyr
NM_139009.2:c.776G>A VV NP_620578.1:p.Cys259Tyr
NM_139010.2:c.305G>A VV NP_620579.1:p.Cys102Tyr
NM_139011.2:c.77-206G>A VV NP_620580.1:p.=
XM_011514543.1:c.845G>A XP_011512845.1:p.Cys282Tyr
XM_011514544.1:c.836G>A XP_011512846.1:p.Cys279Tyr
XR_241893.2:n.967G>A
XM_011514543.3:c.845G>A XP_011512845.1:p.Cys282Tyr
XR_241893.4:n.939G>A
ENST00000309234.10:c.845G>A ENSP00000311698.6:p.Cys282Tyr
ENST00000317896.11:c.569G>A ENSP00000313776.7:p.Cys190Tyr
ENST00000336625.12:c.527G>A ENSP00000337819.8:p.Cys176Tyr
ENST00000349999.8:c.581G>A ENSP00000259699.6:p.Cys194Tyr
ENST00000352392.8:c.77-206G>A ENSP00000315936.4:p.=
ENST00000353147.9:c.305G>A ENSP00000312342.5:p.Cys102Tyr
ENST00000357618.9:c.845G>A ENSP00000417404.1:p.Cys282Tyr
ENST00000397022.7:c.776G>A ENSP00000380217.3:p.Cys259Tyr
ENST00000461397.5:c.803G>A ENSP00000420802.1:p.Cys268Tyr
ENST00000470149.5:c.836G>A ENSP00000419725.1:p.Cys279Tyr
ENST00000483782.1:n.1176G>A
ENST00000486147.1:n.688G>A
ENST00000488199.5:c.539G>A ENSP00000420559.1:p.Cys180Tyr
ENST00000629531.1:n.132+30860C>T ENSP00000486472.1:p.=