Canonical Allele Identifier: CA391696517

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1360557023
• gnomAD v3: 15-40016541-T-G
• gnomAD v4: 15-40016541-T-G
• MyVariant Identifiers: chr15:g.40308742T>G (hg19) ; chr15:g.40016541T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016541T>G , CM000677.2:g.40016541T>G	GRCh38
NC_000015.9:g.40308742T>G , CM000677.1:g.40308742T>G	GRCh37
NC_000015.8:g.38096034T>G	NCBI36
NG_034053.1:g.87418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3799T>G MANE Select	ENSP00000263791.5:p.Leu1267Val
ENST00000263791.9:c.3799T>G	ENSP00000263791.5:p.Leu1267Val
ENST00000558557.1:n.923-567T>G
ENST00000558629.5:n.2716T>G
ENST00000560855.5:c.3131T>G
NM_001013703.3:c.3799T>G	NP_001013725.2:p.Leu1267Val
XM_005254392.1:c.3799T>G	XP_005254449.1:p.Leu1267Val
XM_011521599.1:c.3799T>G	XP_011519901.1:p.Leu1267Val
XM_011521600.1:c.3760-567T>G	XP_011519902.1:n.3760-567T>G
XM_005254392.3:c.3799T>G	XP_005254449.1:p.Leu1267Val
XM_011521599.2:c.3799T>G	XP_011519901.1:p.Leu1267Val
XM_011521600.3:c.3760-567T>G	XP_011519902.1:n.3760-567T>G
XM_017022219.2:c.3760-567T>G	XP_016877708.1:n.3760-567T>G
NM_001013703.4:c.3799T>G MANE Select	NP_001013725.2:p.Leu1267Val