Canonical Allele Identifier: CA149752

Gene: EIF2AK4

Linked Data

• ClinVar Variation Id: 97065
• ClinVar RCV Id: RCV000083307
• dbSNP Id: rs587777103
• MyVariant Identifiers: chr15:g.40308745C>T (hg19) ; chr15:g.40016544C>T (hg38)
• PubMed: PMID:24292273 ; PMID:24784157

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016544C>T , CM000677.2:g.40016544C>T	GRCh38
NC_000015.9:g.40308745C>T , CM000677.1:g.40308745C>T	GRCh37
NC_000015.8:g.38096037C>T	NCBI36
NG_034053.1:g.87421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3802C>T MANE Select	ENSP00000263791.5:p.Gln1268Ter
ENST00000263791.9:c.3802C>T	ENSP00000263791.5:p.Gln1268Ter
ENST00000558557.1:n.923-564C>T
ENST00000558629.5:n.2719C>T
ENST00000560855.5:c.3134C>T
NM_001013703.3:c.3802C>T	NP_001013725.2:p.Gln1268Ter
XM_005254392.1:c.3802C>T	XP_005254449.1:p.Gln1268Ter
XM_011521599.1:c.3802C>T	XP_011519901.1:p.Gln1268Ter
XM_011521600.1:c.3760-564C>T	XP_011519902.1:n.3760-564C>T
XM_005254392.3:c.3802C>T	XP_005254449.1:p.Gln1268Ter
XM_011521599.2:c.3802C>T	XP_011519901.1:p.Gln1268Ter
XM_011521600.3:c.3760-564C>T	XP_011519902.1:n.3760-564C>T
XM_017022219.2:c.3760-564C>T	XP_016877708.1:n.3760-564C>T
NM_001013703.4:c.3802C>T MANE Select	NP_001013725.2:p.Gln1268Ter