Canonical Allele Identifier: CA489661781

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40016657-C-A
• MyVariant Identifiers: chr15:g.40308858C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016657C>A , CM000677.2:g.40016657C>A	GRCh38
NC_000015.9:g.40308858C>A , CM000677.1:g.40308858C>A	GRCh37
NC_000015.8:g.38096150C>A	NCBI36
NG_034053.1:g.87534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3915C>A MANE Select	ENSP00000263791.5:p.Leu1305=
ENST00000263791.9:c.3915C>A	ENSP00000263791.5:p.Leu1305=
ENST00000558557.1:n.923-451C>A
ENST00000558629.5:n.2832C>A
ENST00000560855.5:c.3247C>A
NM_001013703.3:c.3915C>A	NP_001013725.2:p.Leu1305=
XM_005254392.1:c.3915C>A	XP_005254449.1:p.Leu1305=
XM_011521599.1:c.3915C>A	XP_011519901.1:p.Leu1305=
XM_011521600.1:c.3760-451C>A	XP_011519902.1:n.3760-451C>A
XM_005254392.3:c.3915C>A	XP_005254449.1:p.Leu1305=
XM_011521599.2:c.3915C>A	XP_011519901.1:p.Leu1305=
XM_011521600.3:c.3760-451C>A	XP_011519902.1:n.3760-451C>A
XM_017022219.2:c.3760-451C>A	XP_016877708.1:n.3760-451C>A
NM_001013703.4:c.3915C>A MANE Select	NP_001013725.2:p.Leu1305=