Canonical Allele Identifier: CA18243762

Gene: CASP9

Linked Data

• dbSNP Id: rs373627814
• gnomAD v3: 1-15507767-G-T
• gnomAD v4: 1-15507767-G-T
• COSMIC: COSN1090531
• MyVariant Identifiers: chr1:g.15834262G>T (hg19) ; chr1:g.15507767G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15507767G>T , CM000663.2:g.15507767G>T	GRCh38
NC_000001.10:g.15834262G>T , CM000663.1:g.15834262G>T	GRCh37
NC_000001.9:g.15706849G>T	NCBI36
NG_029188.1:g.22024C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.453+106C>A MANE Select	ENSP00000330237.5:n.453+106C>A
ENST00000333868.9:c.453+106C>A	ENSP00000330237.5:n.453+106C>A
ENST00000348549.9:c.418+10343C>A	ENSP00000255256.7:n.418+10343C>A
ENST00000375890.8:c.204+106C>A	ENSP00000365051.4:n.204+106C>A
ENST00000400777.7:c.445+106C>A
ENST00000440484.1:c.453+106C>A	ENSP00000411304.1:n.453+106C>A
ENST00000447522.5:c.204+106C>A	ENSP00000396540.1:n.204+106C>A
ENST00000474305.2:c.313+106C>A	ENSP00000449216.1:n.313+106C>A
ENST00000546424.5:c.453+106C>A	ENSP00000449584.1:n.453+106C>A
NM_001229.4:c.453+106C>A	NP_001220.2:n.453+106C>A
NM_001278054.1:c.418+10343C>A	NP_001264983.1:n.418+10343C>A
NM_032996.3:c.204+106C>A	NP_127463.2:n.204+106C>A
NR_102732.1:n.698+106C>A
NR_102733.1:n.558+106C>A
XM_005246014.2:c.204+106C>A	XP_005246071.1:n.204+106C>A
XM_011542270.1:c.453+106C>A	XP_011540572.1:n.453+106C>A
XM_011542271.1:c.204+106C>A	XP_011540573.1:n.204+106C>A
XM_011542272.1:c.204+106C>A	XP_011540574.1:n.204+106C>A
XM_011542273.1:c.453+106C>A	XP_011540575.1:n.453+106C>A
XR_946778.1:n.618+106C>A
XM_011542273.3:c.453+106C>A	XP_011540575.1:n.453+106C>A
NM_001229.5:c.453+106C>A MANE Select	NP_001220.2:n.453+106C>A
NM_001278054.2:c.418+10343C>A	NP_001264983.1:n.418+10343C>A
NR_102732.2:n.468+106C>A
NR_102733.2:n.328+106C>A