Canonical Allele Identifier: CA391685693

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-39978115-A-C
• MyVariant Identifiers: chr15:g.40270316A>C (hg19) ; chr15:g.39978115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978115A>C , CM000677.2:g.39978115A>C	GRCh38
NC_000015.9:g.40270316A>C , CM000677.1:g.40270316A>C	GRCh37
NC_000015.8:g.38057608A>C	NCBI36
NG_034053.1:g.48992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2287A>C MANE Select	ENSP00000263791.5:p.Asn763His
ENST00000263791.9:c.2287A>C	ENSP00000263791.5:p.Asn763His
ENST00000560855.5:c.1703A>C
ENST00000624709.1:n.1137A>C
NM_001013703.3:c.2287A>C	NP_001013725.2:p.Asn763His
XM_005254392.1:c.2287A>C	XP_005254449.1:p.Asn763His
XM_011521599.1:c.2287A>C	XP_011519901.1:p.Asn763His
XM_011521600.1:c.2287A>C	XP_011519902.1:p.Asn763His
XM_005254392.3:c.2287A>C	XP_005254449.1:p.Asn763His
XM_011521599.2:c.2287A>C	XP_011519901.1:p.Asn763His
XM_011521600.3:c.2287A>C	XP_011519902.1:p.Asn763His
XM_017022219.2:c.2287A>C	XP_016877708.1:p.Asn763His
NM_001013703.4:c.2287A>C MANE Select	NP_001013725.2:p.Asn763His