Canonical Allele Identifier: CA968934339

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs2035307232
• gnomAD v3: 15-40016726-C-T
• gnomAD v4: 15-40016726-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016726C>T , CM000677.2:g.40016726C>T	GRCh38
NC_000015.9:g.40308927C>T , CM000677.1:g.40308927C>T	GRCh37
NC_000015.8:g.38096219C>T	NCBI36
NG_034053.1:g.87603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3930+54C>T MANE Select	ENSP00000263791.5:n.3930+54C>T
ENST00000263791.9:c.3930+54C>T	ENSP00000263791.5:n.3930+54C>T
ENST00000558557.1:n.923-382C>T
ENST00000558629.5:n.2847+54C>T
ENST00000560855.5:c.3262+54C>T
NM_001013703.3:c.3930+54C>T	NP_001013725.2:n.3930+54C>T
XM_005254392.1:c.3930+54C>T	XP_005254449.1:n.3930+54C>T
XM_011521599.1:c.3930+54C>T	XP_011519901.1:n.3930+54C>T
XM_011521600.1:c.3760-382C>T	XP_011519902.1:n.3760-382C>T
XM_005254392.3:c.3930+54C>T	XP_005254449.1:n.3930+54C>T
XM_011521599.2:c.3930+54C>T	XP_011519901.1:n.3930+54C>T
XM_011521600.3:c.3760-382C>T	XP_011519902.1:n.3760-382C>T
XM_017022219.2:c.3760-382C>T	XP_016877708.1:n.3760-382C>T
NM_001013703.4:c.3930+54C>T MANE Select	NP_001013725.2:n.3930+54C>T