Canonical Allele Identifier: CA149757
Gene: EIF2AK4 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.39973685G>A
GRCh37 chr15:g.40265886G>A
Revel Score:
ENST00000263791 (MANE Select) 0.861
ENST00000382727 0.861
gnomAD v2:
15:40265886 G / A
gnomAD v3:
15:39973685 G / A
gnomAD v4:
chr15-39973685-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
102967
ClinVar RCV:
RCV000083310
ClinVar Variation:
97068
dbSNP:
587777106
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39973685G>A , CM000677.2:g.39973685G>A GRCh38
NC_000015.9:g.40265886G>A , CM000677.1:g.40265886G>A GRCh37
NC_000015.8:g.38053178G>A NCBI36
NG_034053.1:g.44562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263791.10:c.1754G>A MANE Select ENSP00000263791.5:p.Arg585Gln
ENST00000263791.9:c.1754G>A ENSP00000263791.5:p.Arg585Gln
ENST00000559624.5:c.1754G>A ENSP00000453148.1:p.Arg585Gln
ENST00000560855.5:c.1170G>A
NM_001013703.3:c.1754G>A NP_001013725.2:p.Arg585Gln
XM_005254392.1:c.1754G>A XP_005254449.1:p.Arg585Gln
XM_011521599.1:c.1754G>A XP_011519901.1:p.Arg585Gln
XM_011521600.1:c.1754G>A XP_011519902.1:p.Arg585Gln
XM_005254392.3:c.1754G>A XP_005254449.1:p.Arg585Gln
XM_011521599.2:c.1754G>A XP_011519901.1:p.Arg585Gln
XM_011521600.3:c.1754G>A XP_011519902.1:p.Arg585Gln
XM_017022219.2:c.1754G>A XP_016877708.1:p.Arg585Gln
NM_001013703.4:c.1754G>A MANE Select NP_001013725.2:p.Arg585Gln
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