Canonical Allele Identifier: CA340468

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 5863
• ClinVar RCV Id: RCV000006221 ; RCV000516514 ; RCV004018574
• dbSNP Id: rs80338761
• gnomAD v4: 17-77402298-C-T
• MyVariant Identifiers: chr17:g.75398380C>T (hg19) ; chr17:g.77402298C>T (hg38)
• PubMed: PMID:16186812 ; PMID:17546647 ; PMID:18492087 ; PMID:19204161 ; PMID:19451530 ; PMID:20301569 ; PMID:22981636

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402298C>T , CM000679.2:g.77402298C>T	GRCh38
NC_000017.10:g.75398380C>T , CM000679.1:g.75398380C>T	GRCh37
NC_000017.9:g.72909975C>T	NCBI36
NG_011683.1:g.125889C>T
NG_011683.2:g.125889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.262C>T MANE Plus Clinical	ENSP00000329161.8:p.Arg88Trp
ENST00000427177.6:c.316C>T MANE Select	ENSP00000391249.1:p.Arg106Trp
ENST00000588690.6:c.-177C>T	ENSP00000468668.1:n.-177C>T
ENST00000590294.6:n.365C>T
ENST00000329047.12:c.262C>T	ENSP00000329161.8:p.Arg88Trp
ENST00000423034.6:c.295C>T	ENSP00000405877.1:p.Arg99Trp
ENST00000427177.5:c.316C>T	ENSP00000391249.1:p.Arg106Trp
ENST00000427674.6:c.-177C>T	ENSP00000403194.1:n.-177C>T
ENST00000431235.6:c.-177C>T	ENSP00000406987.2:n.-177C>T
ENST00000449803.6:c.-177C>T	ENSP00000400181.2:n.-177C>T
ENST00000586812.1:n.375C>T
ENST00000587514.1:n.445C>T
ENST00000588575.1:c.37-39C>T	ENSP00000468090.1:n.37-39C>T
ENST00000588690.5:c.-177C>T	ENSP00000468668.1:n.-177C>T
ENST00000589070.1:c.271C>T	ENSP00000465332.1:p.Arg91Trp
ENST00000589140.1:c.271C>T	ENSP00000466997.1:p.Arg91Trp
ENST00000590059.5:c.25-258C>T	ENSP00000466164.1:n.25-258C>T
ENST00000590294.5:c.262C>T	ENSP00000465464.1:p.Arg88Trp
ENST00000590576.5:c.*316C>T	ENSP00000465600.1:n.*316C>T
ENST00000590586.1:n.421C>T
ENST00000590595.1:c.37-39C>T	ENSP00000465026.1:n.37-39C>T
ENST00000590825.1:c.-177C>T	ENSP00000468244.1:n.-177C>T
ENST00000591198.5:c.259C>T	ENSP00000468406.1:p.Arg87Trp
ENST00000591833.5:c.*311C>T	ENSP00000466684.1:n.*311C>T
ENST00000591934.1:c.337C>T	ENSP00000468504.1:p.Arg113Trp
ENST00000592098.1:n.346C>T
ENST00000592420.1:c.-258C>T	ENSP00000467051.1:n.-258C>T
NM_001113491.1:c.316C>T	NP_001106963.1:p.Arg106Trp
NM_001113492.1:c.-177C>T	NP_001106964.1:n.-177C>T
NM_001113493.1:c.295C>T	NP_001106965.1:p.Arg99Trp
NM_001113494.1:c.-177C>T	NP_001106966.1:n.-177C>T
NM_001293695.1:c.259C>T	NP_001280624.1:p.Arg87Trp
NM_006640.4:c.262C>T	NP_006631.2:p.Arg88Trp
XM_006721643.2:c.-177C>T	XP_006721706.1:n.-177C>T
XM_011524204.1:c.409C>T	XP_011522506.1:p.Arg137Trp
XM_011524205.1:c.406C>T	XP_011522507.1:p.Arg136Trp
XM_011524206.1:c.271C>T	XP_011522508.1:p.Arg91Trp
XM_011524207.1:c.-177C>T	XP_011522509.1:n.-177C>T
NM_001113491.2:c.316C>T MANE Select	NP_001106963.1:p.Arg106Trp
NM_001113493.2:c.295C>T	NP_001106965.1:p.Arg99Trp
NM_001293695.2:c.259C>T	NP_001280624.1:p.Arg87Trp
NM_001113492.2:c.-177C>T	NP_001106964.1:n.-177C>T
NM_006640.5:c.262C>T MANE Plus Clinical	NP_006631.2:p.Arg88Trp