Canonical Allele Identifier: CA7474468

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs758628535
• ExAC: 15:40308842 G / C
• gnomAD v2: 15-40308842-G-C
• gnomAD v4: 15-40016641-G-C
• MyVariant Identifiers: chr15:g.40308842G>C (hg19) ; chr15:g.40016641G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016641G>C , CM000677.2:g.40016641G>C	GRCh38
NC_000015.9:g.40308842G>C , CM000677.1:g.40308842G>C	GRCh37
NC_000015.8:g.38096134G>C	NCBI36
NG_034053.1:g.87518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3899G>C MANE Select	ENSP00000263791.5:p.Gly1300Ala
ENST00000263791.9:c.3899G>C	ENSP00000263791.5:p.Gly1300Ala
ENST00000558557.1:n.923-467G>C
ENST00000558629.5:n.2816G>C
ENST00000560855.5:c.3231G>C
NM_001013703.3:c.3899G>C	NP_001013725.2:p.Gly1300Ala
XM_005254392.1:c.3899G>C	XP_005254449.1:p.Gly1300Ala
XM_011521599.1:c.3899G>C	XP_011519901.1:p.Gly1300Ala
XM_011521600.1:c.3760-467G>C	XP_011519902.1:n.3760-467G>C
XM_005254392.3:c.3899G>C	XP_005254449.1:p.Gly1300Ala
XM_011521599.2:c.3899G>C	XP_011519901.1:p.Gly1300Ala
XM_011521600.3:c.3760-467G>C	XP_011519902.1:n.3760-467G>C
XM_017022219.2:c.3760-467G>C	XP_016877708.1:n.3760-467G>C
NM_001013703.4:c.3899G>C MANE Select	NP_001013725.2:p.Gly1300Ala