Canonical Allele Identifier: CA18233156
Gene: CASP9 HGNC NCBI
COSMIC:
COSN6507686 (not active)
MyVariant.info:
GRCh38 chr1:g.15496566C>T
GRCh37 chr1:g.15823061C>T
gnomAD v2:
1:15823061 C / T
gnomAD v3:
1:15496566 C / T
gnomAD v4:
chr1-15496566-C-T
Joint Max Group AF 0.35176097 (SAS)
Genomes Max Group AF 0.35176097 (SAS)
dbSNP:
4661636
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15496566C>T , CM000663.2:g.15496566C>T GRCh38
NC_000001.10:g.15823061C>T , CM000663.1:g.15823061C>T GRCh37
NC_000001.9:g.15695648C>T NCBI36
NG_029188.1:g.33225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333868.10:c.869-1114G>A MANE Select ENSP00000330237.5:n.869-1114G>A
ENST00000333868.9:c.869-1114G>A ENSP00000330237.5:n.869-1114G>A
ENST00000348549.9:c.419-1114G>A ENSP00000255256.7:n.419-1114G>A
ENST00000375890.8:c.620-1114G>A ENSP00000365051.4:n.620-1114G>A
ENST00000400777.7:c.919-1114G>A
ENST00000424908.5:c.393-2565G>A
ENST00000447522.5:c.620-1114G>A ENSP00000396540.1:n.620-1114G>A
ENST00000474305.2:c.729-1114G>A ENSP00000449216.1:n.729-1114G>A
ENST00000546424.5:c.869-1114G>A ENSP00000449584.1:n.869-1114G>A
NM_001229.4:c.869-1114G>A NP_001220.2:n.869-1114G>A
NM_001278054.1:c.419-1114G>A NP_001264983.1:n.419-1114G>A
NM_032996.3:c.620-1114G>A NP_127463.2:n.620-1114G>A
NR_102732.1:n.1172-1114G>A
NR_102733.1:n.974-1114G>A
XM_005246014.2:c.620-1114G>A XP_005246071.1:n.620-1114G>A
XM_011542271.1:c.620-1114G>A XP_011540573.1:n.620-1114G>A
XM_011542272.1:c.620-1114G>A XP_011540574.1:n.620-1114G>A
XM_011542273.1:c.869-1114G>A XP_011540575.1:n.869-1114G>A
XR_946778.1:n.796-1114G>A
XM_011542273.3:c.869-1114G>A XP_011540575.1:n.869-1114G>A
NM_001229.5:c.869-1114G>A MANE Select NP_001220.2:n.869-1114G>A
NM_001278054.2:c.419-1114G>A NP_001264983.1:n.419-1114G>A
NR_102732.2:n.942-1114G>A
NR_102733.2:n.744-1114G>A
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