Canonical Allele Identifier: CA712722651

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1390312104
• gnomAD v3: 15-40016768-T-G
• gnomAD v4: 15-40016768-T-G
• MyVariant Identifiers: chr15:g.40308969T>G (hg19) ; chr15:g.40016768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016768T>G , CM000677.2:g.40016768T>G	GRCh38
NC_000015.9:g.40308969T>G , CM000677.1:g.40308969T>G	GRCh37
NC_000015.8:g.38096261T>G	NCBI36
NG_034053.1:g.87645T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930+96T>G MANE Select	ENSP00000263791.5:n.3930+96T>G
ENST00000263791.9:c.3930+96T>G	ENSP00000263791.5:n.3930+96T>G
ENST00000558557.1:n.923-340T>G
ENST00000558629.5:n.2847+96T>G
ENST00000560855.5:c.3262+96T>G
NM_001013703.3:c.3930+96T>G	NP_001013725.2:n.3930+96T>G
XM_005254392.1:c.3930+96T>G	XP_005254449.1:n.3930+96T>G
XM_011521599.1:c.3930+96T>G	XP_011519901.1:n.3930+96T>G
XM_011521600.1:c.3760-340T>G	XP_011519902.1:n.3760-340T>G
XM_005254392.3:c.3930+96T>G	XP_005254449.1:n.3930+96T>G
XM_011521599.2:c.3930+96T>G	XP_011519901.1:n.3930+96T>G
XM_011521600.3:c.3760-340T>G	XP_011519902.1:n.3760-340T>G
XM_017022219.2:c.3760-340T>G	XP_016877708.1:n.3760-340T>G
NM_001013703.4:c.3930+96T>G MANE Select	NP_001013725.2:n.3930+96T>G