Canonical Allele Identifier: CA280947

Linked Data

ClinVar Variation Id: 18
ClinVar RCV Id: RCV000000035
dbSNP Id: rs111033558

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000485729.2:c.989G>T (HFE) ENSP00000417534.2:p.Arg330Met
ENST00000707188.1:c.391-2181C>A (H2BC4) ENSP00000516775.1:n.391-2181C>A
ENST00000357618.10:c.989G>T (HFE) MANE Select ENSP00000417404.1:p.Arg330Met
ENST00000309234.10:c.989G>T (HFE) ENSP00000311698.6:p.Arg330Met
ENST00000317896.11:c.713G>T (HFE) ENSP00000313776.7:p.Arg238Met
ENST00000336625.12:c.671G>T (HFE) ENSP00000337819.8:p.Arg224Met
ENST00000349999.8:c.725G>T (HFE) ENSP00000259699.6:p.Arg242Met
ENST00000352392.8:c.173G>T (HFE) ENSP00000315936.4:p.Arg58Met
ENST00000353147.9:c.449G>T (HFE) ENSP00000312342.5:p.Arg150Met
ENST00000357618.9:c.989G>T (HFE) ENSP00000417404.1:p.Arg330Met
ENST00000397022.7:c.920G>T (HFE) ENSP00000380217.3:p.Arg307Met
ENST00000461397.5:c.947G>T (HFE) ENSP00000420802.1:p.Arg316Met
ENST00000470149.5:c.980G>T (HFE) ENSP00000419725.1:p.Arg327Met
ENST00000485729.1:c.110G>T (HFE) ENSP00000417534.1:p.Arg37Met
ENST00000486147.1:n.898G>T (HFE)
ENST00000488199.5:c.683G>T (HFE) ENSP00000420559.1:p.Arg228Met
ENST00000629531.1:c.132+30558C>A (H2BC3) ENSP00000486472.1:n.132+30558C>A
NM_000410.3:c.989G>T , LRG_748t1:c.989G>T (HFE) NP_000401.1:p.Arg330Met
NM_001300749.1:c.989G>T (HFE) NP_001287678.1:p.Arg330Met
NM_139003.2:c.671G>T (HFE) NP_620572.1:p.Arg224Met
NM_139004.2:c.713G>T (HFE) NP_620573.1:p.Arg238Met
NM_139006.2:c.947G>T (HFE) NP_620575.1:p.Arg316Met
NM_139007.2:c.725G>T (HFE) NP_620576.1:p.Arg242Met
NM_139008.2:c.683G>T (HFE) NP_620577.1:p.Arg228Met
NM_139009.2:c.920G>T (HFE) NP_620578.1:p.Arg307Met
NM_139010.2:c.449G>T (HFE) NP_620579.1:p.Arg150Met
NM_139011.2:c.173G>T (HFE) NP_620580.1:p.Arg58Met
XM_011514543.1:c.989G>T (HFE) XP_011512845.1:p.Arg330Met
XM_011514544.1:c.980G>T (HFE) XP_011512846.1:p.Arg327Met
XM_011514543.3:c.989G>T (HFE) XP_011512845.1:p.Arg330Met
XR_241893.4:n.1149G>T (HFE)
NM_001300749.2:c.989G>T (HFE) NP_001287678.1:p.Arg330Met
NM_139003.3:c.671G>T (HFE) NP_620572.1:p.Arg224Met
NM_139004.3:c.713G>T (HFE) NP_620573.1:p.Arg238Met
NM_139006.3:c.947G>T (HFE) NP_620575.1:p.Arg316Met
NM_139007.3:c.725G>T (HFE) NP_620576.1:p.Arg242Met
NM_139008.3:c.683G>T (HFE) NP_620577.1:p.Arg228Met
NM_139009.3:c.920G>T (HFE) NP_620578.1:p.Arg307Met
NM_139010.3:c.449G>T (HFE) NP_620579.1:p.Arg150Met
NM_139011.3:c.173G>T (HFE) NP_620580.1:p.Arg58Met
NM_000410.4:c.989G>T (HFE) MANE Select NP_000401.1:p.Arg330Met
NM_001384164.1:c.989G>T (HFE) NP_001371093.1:p.Arg330Met