Canonical Allele Identifier: CA18243951

Gene: CASP9

Linked Data

• dbSNP Id: rs578065037
• gnomAD v3: 1-15507978-G-A
• gnomAD v4: 1-15507978-G-A
• MyVariant Identifiers: chr1:g.15834473G>A (hg19) ; chr1:g.15507978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15507978G>A , CM000663.2:g.15507978G>A	GRCh38
NC_000001.10:g.15834473G>A , CM000663.1:g.15834473G>A	GRCh37
NC_000001.9:g.15707060G>A	NCBI36
NG_029188.1:g.21813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333868.10:c.419-71C>T MANE Select	ENSP00000330237.5:n.419-71C>T
ENST00000333868.9:c.419-71C>T	ENSP00000330237.5:n.419-71C>T
ENST00000348549.9:c.418+10132C>T	ENSP00000255256.7:n.418+10132C>T
ENST00000375890.8:c.170-71C>T	ENSP00000365051.4:n.170-71C>T
ENST00000400777.7:c.411-71C>T
ENST00000440484.1:c.419-71C>T	ENSP00000411304.1:n.419-71C>T
ENST00000447522.5:c.170-71C>T	ENSP00000396540.1:n.170-71C>T
ENST00000474305.2:c.279-71C>T	ENSP00000449216.1:n.279-71C>T
ENST00000546424.5:c.419-71C>T	ENSP00000449584.1:n.419-71C>T
ENST00000546969.1:n.434-71C>T
NM_001229.4:c.419-71C>T	NP_001220.2:n.419-71C>T
NM_001278054.1:c.418+10132C>T	NP_001264983.1:n.418+10132C>T
NM_032996.3:c.170-71C>T	NP_127463.2:n.170-71C>T
NR_102732.1:n.664-71C>T
NR_102733.1:n.524-71C>T
XM_005246014.2:c.170-71C>T	XP_005246071.1:n.170-71C>T
XM_011542270.1:c.419-71C>T	XP_011540572.1:n.419-71C>T
XM_011542271.1:c.170-71C>T	XP_011540573.1:n.170-71C>T
XM_011542272.1:c.170-71C>T	XP_011540574.1:n.170-71C>T
XM_011542273.1:c.419-71C>T	XP_011540575.1:n.419-71C>T
XR_946778.1:n.584-71C>T
XM_011542273.3:c.419-71C>T	XP_011540575.1:n.419-71C>T
NM_001229.5:c.419-71C>T MANE Select	NP_001220.2:n.419-71C>T
NM_001278054.2:c.418+10132C>T	NP_001264983.1:n.418+10132C>T
NR_102732.2:n.434-71C>T
NR_102733.2:n.294-71C>T