Canonical Allele Identifier: CA391693220

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40293252C>A (hg19) ; chr15:g.40001051C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40001051C>A , CM000677.2:g.40001051C>A	GRCh38
NC_000015.9:g.40293252C>A , CM000677.1:g.40293252C>A	GRCh37
NC_000015.8:g.38080544C>A	NCBI36
NG_034053.1:g.71928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2986C>A MANE Select	ENSP00000263791.5:p.Leu996Ile
ENST00000263791.9:c.2986C>A	ENSP00000263791.5:p.Leu996Ile
ENST00000558629.5:n.1903C>A
ENST00000560855.5:c.2318C>A
NM_001013703.3:c.2986C>A	NP_001013725.2:p.Leu996Ile
XM_005254392.1:c.2986C>A	XP_005254449.1:p.Leu996Ile
XM_011521599.1:c.2986C>A	XP_011519901.1:p.Leu996Ile
XM_011521600.1:c.2986C>A	XP_011519902.1:p.Leu996Ile
XM_005254392.3:c.2986C>A	XP_005254449.1:p.Leu996Ile
XM_011521599.2:c.2986C>A	XP_011519901.1:p.Leu996Ile
XM_011521600.3:c.2986C>A	XP_011519902.1:p.Leu996Ile
XM_017022219.2:c.2986C>A	XP_016877708.1:p.Leu996Ile
NM_001013703.4:c.2986C>A MANE Select	NP_001013725.2:p.Leu996Ile