Canonical Allele Identifier: CA391696700

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1567006381
• gnomAD v2: 15-40308825-C-A
• gnomAD v4: 15-40016624-C-A
• MyVariant Identifiers: chr15:g.40308825C>A (hg19) ; chr15:g.40016624C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016624C>A , CM000677.2:g.40016624C>A	GRCh38
NC_000015.9:g.40308825C>A , CM000677.1:g.40308825C>A	GRCh37
NC_000015.8:g.38096117C>A	NCBI36
NG_034053.1:g.87501C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3882C>A MANE Select	ENSP00000263791.5:p.Asp1294Glu
ENST00000263791.9:c.3882C>A	ENSP00000263791.5:p.Asp1294Glu
ENST00000558557.1:n.923-484C>A
ENST00000558629.5:n.2799C>A
ENST00000560855.5:c.3214C>A
NM_001013703.3:c.3882C>A	NP_001013725.2:p.Asp1294Glu
XM_005254392.1:c.3882C>A	XP_005254449.1:p.Asp1294Glu
XM_011521599.1:c.3882C>A	XP_011519901.1:p.Asp1294Glu
XM_011521600.1:c.3760-484C>A	XP_011519902.1:n.3760-484C>A
XM_005254392.3:c.3882C>A	XP_005254449.1:p.Asp1294Glu
XM_011521599.2:c.3882C>A	XP_011519901.1:p.Asp1294Glu
XM_011521600.3:c.3760-484C>A	XP_011519902.1:n.3760-484C>A
XM_017022219.2:c.3760-484C>A	XP_016877708.1:n.3760-484C>A
NM_001013703.4:c.3882C>A MANE Select	NP_001013725.2:p.Asp1294Glu