Canonical Allele Identifier: CA402939269
Gene: GPX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2043522
ClinVar RCV Id: RCV002895837
gnomAD v3: 19-1106265-A-G
gnomAD v4: 19-1106265-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1106265A>G , CM000681.2:g.1106265A>G GRCh38
NC_000019.9:g.1106264A>G , CM000681.1:g.1106264A>G GRCh37
NC_000019.8:g.1057264A>G NCBI36
NG_050621.1:g.7340A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000585362.7:c.611A>G ENSP00000473614.3:p.Lys204Arg
ENST00000593032.6:c.480A>G ENSP00000465828.4:p.Gln160=
ENST00000706713.1:c.494A>G ENSP00000516510.1:p.Lys165Arg
ENST00000706714.1:c.480A>G ENSP00000516511.1:p.Gln160=
ENST00000706715.1:c.116A>G ENSP00000516512.1:p.Lys39Arg
ENST00000354171.13:c.500A>G MANE Select ENSP00000346103.7:p.Lys167Arg
ENST00000589115.6:c.477-135A>G ENSP00000466872.3:n.477-135A>G
ENST00000354171.12:c.500A>G ENSP00000346103.7:p.Lys167Arg
ENST00000585480.1:c.233A>G ENSP00000467900.1:p.Lys78Arg
ENST00000587648.5:c.380A>G ENSP00000468349.1:p.Lys127Arg
ENST00000588919.5:c.419A>G ENSP00000464989.3:p.Lys140Arg
ENST00000589115.5:c.477-135A>G ENSP00000466872.2:n.477-135A>G
ENST00000592940.2:n.871A>G
ENST00000593032.5:c.480A>G ENSP00000465828.3:p.Gln160=
ENST00000611653.4:c.419A>G ENSP00000483655.1:p.Lys140Arg
ENST00000616066.4:c.497A>G ENSP00000485000.1:p.Lys166Arg
ENST00000622390.4:c.608A>G ENSP00000477503.1:p.Lys203Arg
NM_001039847.2:c.500A>G NP_001034936.1:p.Lys167Arg
NM_001039848.2:c.611A>G NP_001034937.1:p.Lys204Arg
NM_002085.4:c.500A>G NP_002076.2:p.Lys167Arg
NM_001039848.3:c.611A>G NP_001034937.1:p.Lys204Arg
NM_001039847.3:c.500A>G NP_001034936.1:p.Lys167Arg
NM_001039848.4:c.611A>G NP_001034937.1:p.Lys204Arg
NM_001367832.1:c.419A>G NP_001354761.1:p.Lys140Arg
NM_002085.5:c.500A>G MANE Select NP_002076.2:p.Lys167Arg