Canonical Allele Identifier: CA391676941

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40020938-G-C
• MyVariant Identifiers: chr15:g.40313139G>C (hg19) ; chr15:g.40020938G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020938G>C , CM000677.2:g.40020938G>C	GRCh38
NC_000015.9:g.40313139G>C , CM000677.1:g.40313139G>C	GRCh37
NC_000015.8:g.38100431G>C	NCBI36
NG_034053.1:g.91815G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4213G>C MANE Select	ENSP00000263791.5:p.Gly1405Arg
ENST00000263791.9:c.4213G>C	ENSP00000263791.5:p.Gly1405Arg
ENST00000558557.1:n.1205G>C
ENST00000558629.5:n.3130G>C
ENST00000558743.1:n.413G>C
ENST00000560855.5:c.3545G>C
NM_001013703.3:c.4213G>C	NP_001013725.2:p.Gly1405Arg
XM_005254392.1:c.4213G>C	XP_005254449.1:p.Gly1405Arg
XM_011521599.1:c.4213G>C	XP_011519901.1:p.Gly1405Arg
XM_011521600.1:c.4042G>C	XP_011519902.1:p.Gly1348Arg
XM_005254392.3:c.4213G>C	XP_005254449.1:p.Gly1405Arg
XM_011521599.2:c.4213G>C	XP_011519901.1:p.Gly1405Arg
XM_011521600.3:c.4042G>C	XP_011519902.1:p.Gly1348Arg
XM_017022219.2:c.4042G>C	XP_016877708.1:p.Gly1348Arg
NM_001013703.4:c.4213G>C MANE Select	NP_001013725.2:p.Gly1405Arg