Canonical Allele Identifier: CA8793147

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 1682584
• ClinVar RCV Id: RCV002239914 ; RCV003164340
• dbSNP Id: rs202079794
• ExAC: 17:75398290 C / T
• gnomAD v2: 17-75398290-C-T
• gnomAD v3: 17-77402208-C-T
• gnomAD v4: 17-77402208-C-T
• MyVariant Identifiers: chr17:g.75398290C>T (hg19) ; chr17:g.77402208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402208C>T , CM000679.2:g.77402208C>T	GRCh38
NC_000017.10:g.75398290C>T , CM000679.1:g.75398290C>T	GRCh37
NC_000017.9:g.72909885C>T	NCBI36
NG_011683.1:g.125799C>T
NG_011683.2:g.125799C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.172C>T MANE Plus Clinical	ENSP00000329161.8:p.Arg58Cys
ENST00000427177.6:c.226C>T MANE Select	ENSP00000391249.1:p.Arg76Cys
ENST00000588690.6:c.-267C>T	ENSP00000468668.1:n.-267C>T
ENST00000590294.6:n.275C>T
ENST00000329047.12:c.172C>T	ENSP00000329161.8:p.Arg58Cys
ENST00000423034.6:c.205C>T	ENSP00000405877.1:p.Arg69Cys
ENST00000427177.5:c.226C>T	ENSP00000391249.1:p.Arg76Cys
ENST00000427674.6:c.-267C>T	ENSP00000403194.1:n.-267C>T
ENST00000431235.6:c.-267C>T	ENSP00000406987.2:n.-267C>T
ENST00000449803.6:c.-267C>T	ENSP00000400181.2:n.-267C>T
ENST00000586812.1:n.285C>T
ENST00000587514.1:n.355C>T
ENST00000588575.1:c.37-129C>T	ENSP00000468090.1:n.37-129C>T
ENST00000588690.5:c.-267C>T	ENSP00000468668.1:n.-267C>T
ENST00000589070.1:c.181C>T	ENSP00000465332.1:p.Arg61Cys
ENST00000589140.1:c.181C>T	ENSP00000466997.1:p.Arg61Cys
ENST00000590059.5:c.25-348C>T	ENSP00000466164.1:n.25-348C>T
ENST00000590294.5:c.172C>T	ENSP00000465464.1:p.Arg58Cys
ENST00000590576.5:c.*226C>T	ENSP00000465600.1:n.*226C>T
ENST00000590586.1:n.331C>T
ENST00000590595.1:c.37-129C>T	ENSP00000465026.1:n.37-129C>T
ENST00000590825.1:c.-267C>T	ENSP00000468244.1:n.-267C>T
ENST00000591198.5:c.169C>T	ENSP00000468406.1:p.Arg57Cys
ENST00000591833.5:c.*221C>T	ENSP00000466684.1:n.*221C>T
ENST00000591934.1:c.247C>T	ENSP00000468504.1:p.Arg83Cys
ENST00000592098.1:n.256C>T
ENST00000592420.1:c.-348C>T	ENSP00000467051.1:n.-348C>T
NM_001113491.1:c.226C>T	NP_001106963.1:p.Arg76Cys
NM_001113492.1:c.-267C>T	NP_001106964.1:n.-267C>T
NM_001113493.1:c.205C>T	NP_001106965.1:p.Arg69Cys
NM_001113494.1:c.-267C>T	NP_001106966.1:n.-267C>T
NM_001293695.1:c.169C>T	NP_001280624.1:p.Arg57Cys
NM_006640.4:c.172C>T	NP_006631.2:p.Arg58Cys
XM_006721643.2:c.-267C>T	XP_006721706.1:n.-267C>T
XM_011524204.1:c.319C>T	XP_011522506.1:p.Arg107Cys
XM_011524205.1:c.316C>T	XP_011522507.1:p.Arg106Cys
XM_011524206.1:c.181C>T	XP_011522508.1:p.Arg61Cys
XM_011524207.1:c.-267C>T	XP_011522509.1:n.-267C>T
NM_001113491.2:c.226C>T MANE Select	NP_001106963.1:p.Arg76Cys
NM_001113493.2:c.205C>T	NP_001106965.1:p.Arg69Cys
NM_001293695.2:c.169C>T	NP_001280624.1:p.Arg57Cys
NM_001113492.2:c.-267C>T	NP_001106964.1:n.-267C>T
NM_006640.5:c.172C>T MANE Plus Clinical	NP_006631.2:p.Arg58Cys