Canonical Allele Identifier: CA2171582463

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016550C= , CM000677.2:g.40016550C=	GRCh38
NC_000015.9:g.40308751C= , CM000677.1:g.40308751C=	GRCh37
NC_000015.8:g.38096043C=	NCBI36
NG_034053.1:g.87427C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3808C= MANE Select	ENSP00000263791.5:p.Leu1270=
ENST00000263791.9:c.3808C=	ENSP00000263791.5:p.Leu1270=
ENST00000558557.1:n.923-558C=
ENST00000558629.5:n.2725C=
ENST00000560855.5:c.3140C=
NM_001013703.3:c.3808C=	NP_001013725.2:p.Leu1270=
XM_005254392.1:c.3808C=	XP_005254449.1:p.Leu1270=
XM_011521599.1:c.3808C=	XP_011519901.1:p.Leu1270=
XM_011521600.1:c.3760-558C=	XP_011519902.1:n.3760-558C=
XM_005254392.3:c.3808C=	XP_005254449.1:p.Leu1270=
XM_011521599.2:c.3808C=	XP_011519901.1:p.Leu1270=
XM_011521600.3:c.3760-558C=	XP_011519902.1:n.3760-558C=
XM_017022219.2:c.3760-558C=	XP_016877708.1:n.3760-558C=
NM_001013703.4:c.3808C= MANE Select	NP_001013725.2:p.Leu1270=