Canonical Allele Identifier: CA303994421
Gene: GPX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365138
ClinVar RCV Id: RCV001929715
dbSNP Id: rs904315616
gnomAD v2: 19-1106242-G-A
gnomAD v3: 19-1106243-G-A
gnomAD v4: 19-1106243-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1106243G>A , CM000681.2:g.1106243G>A GRCh38
NC_000019.9:g.1106242G>A , CM000681.1:g.1106242G>A GRCh37
NC_000019.8:g.1057242G>A NCBI36
NG_050621.1:g.7318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000585362.7:c.589G>A ENSP00000473614.3:p.Ala197Thr
ENST00000593032.6:c.458G>A ENSP00000465828.4:p.Cys153Tyr
ENST00000706713.1:c.472G>A ENSP00000516510.1:p.Ala158Thr
ENST00000706714.1:c.458G>A ENSP00000516511.1:p.Cys153Tyr
ENST00000706715.1:c.94G>A ENSP00000516512.1:p.Ala32Thr
ENST00000354171.13:c.478G>A MANE Select ENSP00000346103.7:p.Ala160Thr
ENST00000589115.6:c.477-157G>A ENSP00000466872.3:n.477-157G>A
ENST00000354171.12:c.478G>A ENSP00000346103.7:p.Ala160Thr
ENST00000585480.1:c.211G>A ENSP00000467900.1:p.Ala71Thr
ENST00000587648.5:c.358G>A ENSP00000468349.1:p.Ala120Thr
ENST00000588919.5:c.397G>A ENSP00000464989.3:p.Ala133Thr
ENST00000589115.5:c.477-157G>A ENSP00000466872.2:n.477-157G>A
ENST00000592940.2:n.849G>A
ENST00000593032.5:c.458G>A ENSP00000465828.3:p.Cys153Tyr
ENST00000611653.4:c.397G>A ENSP00000483655.1:p.Ala133Thr
ENST00000616066.4:c.475G>A ENSP00000485000.1:p.Ala159Thr
ENST00000622390.4:c.586G>A ENSP00000477503.1:p.Ala196Thr
NM_001039847.2:c.478G>A NP_001034936.1:p.Ala160Thr
NM_001039848.2:c.589G>A NP_001034937.1:p.Ala197Thr
NM_002085.4:c.478G>A NP_002076.2:p.Ala160Thr
NM_001039848.3:c.589G>A NP_001034937.1:p.Ala197Thr
NM_001039847.3:c.478G>A NP_001034936.1:p.Ala160Thr
NM_001039848.4:c.589G>A NP_001034937.1:p.Ala197Thr
NM_001367832.1:c.397G>A NP_001354761.1:p.Ala133Thr
NM_002085.5:c.478G>A MANE Select NP_002076.2:p.Ala160Thr