Canonical Allele Identifier: CA489667086

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40313165C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020964C>A , CM000677.2:g.40020964C>A	GRCh38
NC_000015.9:g.40313165C>A , CM000677.1:g.40313165C>A	GRCh37
NC_000015.8:g.38100457C>A	NCBI36
NG_034053.1:g.91841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.4239C>A MANE Select	ENSP00000263791.5:p.Ile1413=
ENST00000263791.9:c.4239C>A	ENSP00000263791.5:p.Ile1413=
ENST00000558557.1:n.1231C>A
ENST00000558629.5:n.3156C>A
ENST00000558743.1:n.439C>A
ENST00000560855.5:c.3571C>A
NM_001013703.3:c.4239C>A	NP_001013725.2:p.Ile1413=
XM_005254392.1:c.4239C>A	XP_005254449.1:p.Ile1413=
XM_011521599.1:c.4239C>A	XP_011519901.1:p.Ile1413=
XM_011521600.1:c.4068C>A	XP_011519902.1:p.Ile1356=
XM_005254392.3:c.4239C>A	XP_005254449.1:p.Ile1413=
XM_011521599.2:c.4239C>A	XP_011519901.1:p.Ile1413=
XM_011521600.3:c.4068C>A	XP_011519902.1:p.Ile1356=
XM_017022219.2:c.4068C>A	XP_016877708.1:p.Ile1356=
NM_001013703.4:c.4239C>A MANE Select	NP_001013725.2:p.Ile1413=