Canonical Allele Identifier: CA2627758757

Gene: EIF2AK4

Linked Data

• gnomAD v4: 15-40020869-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40020869C>A , CM000677.2:g.40020869C>A	GRCh38
NC_000015.9:g.40313070C>A , CM000677.1:g.40313070C>A	GRCh37
NC_000015.8:g.38100362C>A	NCBI36
NG_034053.1:g.91746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.4174-30C>A MANE Select	ENSP00000263791.5:n.4174-30C>A
ENST00000263791.9:c.4174-30C>A	ENSP00000263791.5:n.4174-30C>A
ENST00000558557.1:n.1166-30C>A
ENST00000558629.5:n.3091-30C>A
ENST00000558743.1:n.344C>A
ENST00000560855.5:c.3506-30C>A
NM_001013703.3:c.4174-30C>A	NP_001013725.2:n.4174-30C>A
XM_005254392.1:c.4174-30C>A	XP_005254449.1:n.4174-30C>A
XM_011521599.1:c.4174-30C>A	XP_011519901.1:n.4174-30C>A
XM_011521600.1:c.4003-30C>A	XP_011519902.1:n.4003-30C>A
XM_005254392.3:c.4174-30C>A	XP_005254449.1:n.4174-30C>A
XM_011521599.2:c.4174-30C>A	XP_011519901.1:n.4174-30C>A
XM_011521600.3:c.4003-30C>A	XP_011519902.1:n.4003-30C>A
XM_017022219.2:c.4003-30C>A	XP_016877708.1:n.4003-30C>A
NM_001013703.4:c.4174-30C>A MANE Select	NP_001013725.2:n.4174-30C>A