Canonical Allele Identifier: CA391696705

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1595431276
• gnomAD v4: 15-40016626-T-C
• MyVariant Identifiers: chr15:g.40308827T>C (hg19) ; chr15:g.40016626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016626T>C , CM000677.2:g.40016626T>C	GRCh38
NC_000015.9:g.40308827T>C , CM000677.1:g.40308827T>C	GRCh37
NC_000015.8:g.38096119T>C	NCBI36
NG_034053.1:g.87503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3884T>C MANE Select	ENSP00000263791.5:p.Leu1295Pro
ENST00000263791.9:c.3884T>C	ENSP00000263791.5:p.Leu1295Pro
ENST00000558557.1:n.923-482T>C
ENST00000558629.5:n.2801T>C
ENST00000560855.5:c.3216T>C
NM_001013703.3:c.3884T>C	NP_001013725.2:p.Leu1295Pro
XM_005254392.1:c.3884T>C	XP_005254449.1:p.Leu1295Pro
XM_011521599.1:c.3884T>C	XP_011519901.1:p.Leu1295Pro
XM_011521600.1:c.3760-482T>C	XP_011519902.1:n.3760-482T>C
XM_005254392.3:c.3884T>C	XP_005254449.1:p.Leu1295Pro
XM_011521599.2:c.3884T>C	XP_011519901.1:p.Leu1295Pro
XM_011521600.3:c.3760-482T>C	XP_011519902.1:n.3760-482T>C
XM_017022219.2:c.3760-482T>C	XP_016877708.1:n.3760-482T>C
NM_001013703.4:c.3884T>C MANE Select	NP_001013725.2:p.Leu1295Pro