Canonical Allele Identifier: CA268722515

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1052912364
• gnomAD v3: 15-40016672-G-A
• gnomAD v4: 15-40016672-G-A
• MyVariant Identifiers: chr15:g.40308873G>A (hg19) ; chr15:g.40016672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016672G>A , CM000677.2:g.40016672G>A	GRCh38
NC_000015.9:g.40308873G>A , CM000677.1:g.40308873G>A	GRCh37
NC_000015.8:g.38096165G>A	NCBI36
NG_034053.1:g.87549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930G>A MANE Select	ENSP00000263791.5:p.Gln1310=
ENST00000263791.9:c.3930G>A	ENSP00000263791.5:p.Gln1310=
ENST00000558557.1:n.923-436G>A
ENST00000558629.5:n.2847G>A
ENST00000560855.5:c.3262G>A
NM_001013703.3:c.3930G>A	NP_001013725.2:p.Gln1310=
XM_005254392.1:c.3930G>A	XP_005254449.1:p.Gln1310=
XM_011521599.1:c.3930G>A	XP_011519901.1:p.Gln1310=
XM_011521600.1:c.3760-436G>A	XP_011519902.1:n.3760-436G>A
XM_005254392.3:c.3930G>A	XP_005254449.1:p.Gln1310=
XM_011521599.2:c.3930G>A	XP_011519901.1:p.Gln1310=
XM_011521600.3:c.3760-436G>A	XP_011519902.1:n.3760-436G>A
XM_017022219.2:c.3760-436G>A	XP_016877708.1:n.3760-436G>A
NM_001013703.4:c.3930G>A MANE Select	NP_001013725.2:p.Gln1310=