Canonical Allele Identifier: CA391693532

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40293306G>C (hg19) ; chr15:g.40001105G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40001105G>C , CM000677.2:g.40001105G>C	GRCh38
NC_000015.9:g.40293306G>C , CM000677.1:g.40293306G>C	GRCh37
NC_000015.8:g.38080598G>C	NCBI36
NG_034053.1:g.71982G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3040G>C MANE Select	ENSP00000263791.5:p.Val1014Leu
ENST00000263791.9:c.3040G>C	ENSP00000263791.5:p.Val1014Leu
ENST00000558629.5:n.1957G>C
ENST00000560855.5:c.2372G>C
NM_001013703.3:c.3040G>C	NP_001013725.2:p.Val1014Leu
XM_005254392.1:c.3040G>C	XP_005254449.1:p.Val1014Leu
XM_011521599.1:c.3040G>C	XP_011519901.1:p.Val1014Leu
XM_011521600.1:c.3040G>C	XP_011519902.1:p.Val1014Leu
XM_005254392.3:c.3040G>C	XP_005254449.1:p.Val1014Leu
XM_011521599.2:c.3040G>C	XP_011519901.1:p.Val1014Leu
XM_011521600.3:c.3040G>C	XP_011519902.1:p.Val1014Leu
XM_017022219.2:c.3040G>C	XP_016877708.1:p.Val1014Leu
NM_001013703.4:c.3040G>C MANE Select	NP_001013725.2:p.Val1014Leu