Canonical Allele Identifier: CA489702738

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1395797977
• gnomAD v2: 15-40308768-T-C
• gnomAD v4: 15-40016567-T-C
• MyVariant Identifiers: chr15:g.40308768T>C (hg19) ; chr15:g.40016567T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016567T>C , CM000677.2:g.40016567T>C	GRCh38
NC_000015.9:g.40308768T>C , CM000677.1:g.40308768T>C	GRCh37
NC_000015.8:g.38096060T>C	NCBI36
NG_034053.1:g.87444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3825T>C MANE Select	ENSP00000263791.5:p.Asn1275=
ENST00000263791.9:c.3825T>C	ENSP00000263791.5:p.Asn1275=
ENST00000558557.1:n.923-541T>C
ENST00000558629.5:n.2742T>C
ENST00000560855.5:c.3157T>C
NM_001013703.3:c.3825T>C	NP_001013725.2:p.Asn1275=
XM_005254392.1:c.3825T>C	XP_005254449.1:p.Asn1275=
XM_011521599.1:c.3825T>C	XP_011519901.1:p.Asn1275=
XM_011521600.1:c.3760-541T>C	XP_011519902.1:n.3760-541T>C
XM_005254392.3:c.3825T>C	XP_005254449.1:p.Asn1275=
XM_011521599.2:c.3825T>C	XP_011519901.1:p.Asn1275=
XM_011521600.3:c.3760-541T>C	XP_011519902.1:n.3760-541T>C
XM_017022219.2:c.3760-541T>C	XP_016877708.1:n.3760-541T>C
NM_001013703.4:c.3825T>C MANE Select	NP_001013725.2:p.Asn1275=