Canonical Allele Identifier: CA489666985

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40313138T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020937T>G , CM000677.2:g.40020937T>G	GRCh38
NC_000015.9:g.40313138T>G , CM000677.1:g.40313138T>G	GRCh37
NC_000015.8:g.38100430T>G	NCBI36
NG_034053.1:g.91814T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.4212T>G MANE Select	ENSP00000263791.5:p.Val1404=
ENST00000263791.9:c.4212T>G	ENSP00000263791.5:p.Val1404=
ENST00000558557.1:n.1204T>G
ENST00000558629.5:n.3129T>G
ENST00000558743.1:n.412T>G
ENST00000560855.5:c.3544T>G
NM_001013703.3:c.4212T>G	NP_001013725.2:p.Val1404=
XM_005254392.1:c.4212T>G	XP_005254449.1:p.Val1404=
XM_011521599.1:c.4212T>G	XP_011519901.1:p.Val1404=
XM_011521600.1:c.4041T>G	XP_011519902.1:p.Val1347=
XM_005254392.3:c.4212T>G	XP_005254449.1:p.Val1404=
XM_011521599.2:c.4212T>G	XP_011519901.1:p.Val1404=
XM_011521600.3:c.4041T>G	XP_011519902.1:p.Val1347=
XM_017022219.2:c.4041T>G	XP_016877708.1:p.Val1347=
NM_001013703.4:c.4212T>G MANE Select	NP_001013725.2:p.Val1404=