Canonical Allele Identifier: CA8793148

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 1682585
• ClinVar RCV Id: RCV002237553
• dbSNP Id: rs752815848
• ExAC: 17:75398292 C / T
• gnomAD v2: 17-75398292-C-T
• gnomAD v3: 17-77402210-C-T
• gnomAD v4: 17-77402210-C-T
• MyVariant Identifiers: chr17:g.75398292C>T (hg19) ; chr17:g.77402210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402210C>T , CM000679.2:g.77402210C>T	GRCh38
NC_000017.10:g.75398292C>T , CM000679.1:g.75398292C>T	GRCh37
NC_000017.9:g.72909887C>T	NCBI36
NG_011683.1:g.125801C>T
NG_011683.2:g.125801C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.174C>T MANE Plus Clinical	ENSP00000329161.8:p.Arg58=
ENST00000427177.6:c.228C>T MANE Select	ENSP00000391249.1:p.Arg76=
ENST00000588690.6:c.-265C>T	ENSP00000468668.1:n.-265C>T
ENST00000590294.6:n.277C>T
ENST00000329047.12:c.174C>T	ENSP00000329161.8:p.Arg58=
ENST00000423034.6:c.207C>T	ENSP00000405877.1:p.Arg69=
ENST00000427177.5:c.228C>T	ENSP00000391249.1:p.Arg76=
ENST00000427674.6:c.-265C>T	ENSP00000403194.1:n.-265C>T
ENST00000431235.6:c.-265C>T	ENSP00000406987.2:n.-265C>T
ENST00000449803.6:c.-265C>T	ENSP00000400181.2:n.-265C>T
ENST00000586812.1:n.287C>T
ENST00000587514.1:n.357C>T
ENST00000588575.1:c.37-127C>T	ENSP00000468090.1:n.37-127C>T
ENST00000588690.5:c.-265C>T	ENSP00000468668.1:n.-265C>T
ENST00000589070.1:c.183C>T	ENSP00000465332.1:p.Arg61=
ENST00000589140.1:c.183C>T	ENSP00000466997.1:p.Arg61=
ENST00000590059.5:c.25-346C>T	ENSP00000466164.1:n.25-346C>T
ENST00000590294.5:c.174C>T	ENSP00000465464.1:p.Arg58=
ENST00000590576.5:c.*228C>T	ENSP00000465600.1:n.*228C>T
ENST00000590586.1:n.333C>T
ENST00000590595.1:c.37-127C>T	ENSP00000465026.1:n.37-127C>T
ENST00000590825.1:c.-265C>T	ENSP00000468244.1:n.-265C>T
ENST00000591198.5:c.171C>T	ENSP00000468406.1:p.Arg57=
ENST00000591833.5:c.*223C>T	ENSP00000466684.1:n.*223C>T
ENST00000591934.1:c.249C>T	ENSP00000468504.1:p.Arg83=
ENST00000592098.1:n.258C>T
ENST00000592420.1:c.-346C>T	ENSP00000467051.1:n.-346C>T
NM_001113491.1:c.228C>T	NP_001106963.1:p.Arg76=
NM_001113492.1:c.-265C>T	NP_001106964.1:n.-265C>T
NM_001113493.1:c.207C>T	NP_001106965.1:p.Arg69=
NM_001113494.1:c.-265C>T	NP_001106966.1:n.-265C>T
NM_001293695.1:c.171C>T	NP_001280624.1:p.Arg57=
NM_006640.4:c.174C>T	NP_006631.2:p.Arg58=
XM_006721643.2:c.-265C>T	XP_006721706.1:n.-265C>T
XM_011524204.1:c.321C>T	XP_011522506.1:p.Arg107=
XM_011524205.1:c.318C>T	XP_011522507.1:p.Arg106=
XM_011524206.1:c.183C>T	XP_011522508.1:p.Arg61=
XM_011524207.1:c.-265C>T	XP_011522509.1:n.-265C>T
NM_001113491.2:c.228C>T MANE Select	NP_001106963.1:p.Arg76=
NM_001113493.2:c.207C>T	NP_001106965.1:p.Arg69=
NM_001293695.2:c.171C>T	NP_001280624.1:p.Arg57=
NM_001113492.2:c.-265C>T	NP_001106964.1:n.-265C>T
NM_006640.5:c.174C>T MANE Plus Clinical	NP_006631.2:p.Arg58=