Canonical Allele Identifier: CA7474454

Gene: EIF2AK4

Linked Data

• ClinVar Variation Id: 2372640
• ClinVar RCV Id: RCV003008895
• dbSNP Id: rs190199769
• ExAC: 15:40308758 C / T
• gnomAD v2: 15-40308758-C-T
• gnomAD v3: 15-40016557-C-T
• gnomAD v4: 15-40016557-C-T
• MyVariant Identifiers: chr15:g.40308758C>T (hg19) ; chr15:g.40016557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40016557C>T , CM000677.2:g.40016557C>T	GRCh38
NC_000015.9:g.40308758C>T , CM000677.1:g.40308758C>T	GRCh37
NC_000015.8:g.38096050C>T	NCBI36
NG_034053.1:g.87434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.3815C>T MANE Select	ENSP00000263791.5:p.Pro1272Leu
ENST00000263791.9:c.3815C>T	ENSP00000263791.5:p.Pro1272Leu
ENST00000558557.1:n.923-551C>T
ENST00000558629.5:n.2732C>T
ENST00000560855.5:c.3147C>T
NM_001013703.3:c.3815C>T	NP_001013725.2:p.Pro1272Leu
XM_005254392.1:c.3815C>T	XP_005254449.1:p.Pro1272Leu
XM_011521599.1:c.3815C>T	XP_011519901.1:p.Pro1272Leu
XM_011521600.1:c.3760-551C>T	XP_011519902.1:n.3760-551C>T
XM_005254392.3:c.3815C>T	XP_005254449.1:p.Pro1272Leu
XM_011521599.2:c.3815C>T	XP_011519901.1:p.Pro1272Leu
XM_011521600.3:c.3760-551C>T	XP_011519902.1:n.3760-551C>T
XM_017022219.2:c.3760-551C>T	XP_016877708.1:n.3760-551C>T
NM_001013703.4:c.3815C>T MANE Select	NP_001013725.2:p.Pro1272Leu