Canonical Allele Identifier: CA489702341

Gene: EIF2AK4

Linked Data

• MyVariant Identifiers: chr15:g.40308714C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016513C>T , CM000677.2:g.40016513C>T	GRCh38
NC_000015.9:g.40308714C>T , CM000677.1:g.40308714C>T	GRCh37
NC_000015.8:g.38096006C>T	NCBI36
NG_034053.1:g.87390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3771C>T MANE Select	ENSP00000263791.5:p.Leu1257=
ENST00000263791.9:c.3771C>T	ENSP00000263791.5:p.Leu1257=
ENST00000558557.1:n.923-595C>T
ENST00000558629.5:n.2688C>T
ENST00000560855.5:c.3103C>T
NM_001013703.3:c.3771C>T	NP_001013725.2:p.Leu1257=
XM_005254392.1:c.3771C>T	XP_005254449.1:p.Leu1257=
XM_011521599.1:c.3771C>T	XP_011519901.1:p.Leu1257=
XM_011521600.1:c.3760-595C>T	XP_011519902.1:n.3760-595C>T
XM_005254392.3:c.3771C>T	XP_005254449.1:p.Leu1257=
XM_011521599.2:c.3771C>T	XP_011519901.1:p.Leu1257=
XM_011521600.3:c.3760-595C>T	XP_011519902.1:n.3760-595C>T
XM_017022219.2:c.3760-595C>T	XP_016877708.1:n.3760-595C>T
NM_001013703.4:c.3771C>T MANE Select	NP_001013725.2:p.Leu1257=