Canonical Allele Identifier: CA7474459

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs767159012
• ExAC: 15:40308805 G / T
• gnomAD v2: 15-40308805-G-T
• gnomAD v4: 15-40016604-G-T
• MyVariant Identifiers: chr15:g.40308805G>T (hg19) ; chr15:g.40016604G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016604G>T , CM000677.2:g.40016604G>T	GRCh38
NC_000015.9:g.40308805G>T , CM000677.1:g.40308805G>T	GRCh37
NC_000015.8:g.38096097G>T	NCBI36
NG_034053.1:g.87481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3862G>T MANE Select	ENSP00000263791.5:p.Val1288Leu
ENST00000263791.9:c.3862G>T	ENSP00000263791.5:p.Val1288Leu
ENST00000558557.1:n.923-504G>T
ENST00000558629.5:n.2779G>T
ENST00000560855.5:c.3194G>T
NM_001013703.3:c.3862G>T	NP_001013725.2:p.Val1288Leu
XM_005254392.1:c.3862G>T	XP_005254449.1:p.Val1288Leu
XM_011521599.1:c.3862G>T	XP_011519901.1:p.Val1288Leu
XM_011521600.1:c.3760-504G>T	XP_011519902.1:n.3760-504G>T
XM_005254392.3:c.3862G>T	XP_005254449.1:p.Val1288Leu
XM_011521599.2:c.3862G>T	XP_011519901.1:p.Val1288Leu
XM_011521600.3:c.3760-504G>T	XP_011519902.1:n.3760-504G>T
XM_017022219.2:c.3760-504G>T	XP_016877708.1:n.3760-504G>T
NM_001013703.4:c.3862G>T MANE Select	NP_001013725.2:p.Val1288Leu