Canonical Allele Identifier: CA8793699

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 325557
• ClinVar RCV Id: RCV000372283 ; RCV000901166
• dbSNP Id: rs199872443
• ExAC: 17:75484799 C / T
• gnomAD v2: 17-75484799-C-T
• gnomAD v3: 17-77488717-C-T
• gnomAD v4: 17-77488717-C-T
• MyVariant Identifiers: chr17:g.75484799C>T (hg19) ; chr17:g.77488717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77488717C>T , CM000679.2:g.77488717C>T	GRCh38
NC_000017.10:g.75484799C>T , CM000679.1:g.75484799C>T	GRCh37
NC_000017.9:g.72996394C>T	NCBI36
NG_011683.1:g.212308C>T
NG_011683.2:g.212308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.1071-10C>T MANE Plus Clinical	ENSP00000329161.8:n.1071-10C>T
ENST00000427177.6:c.1125-10C>T MANE Select	ENSP00000391249.1:n.1125-10C>T
ENST00000588690.6:c.633-10C>T	ENSP00000468668.1:n.633-10C>T
ENST00000589250.6:n.429-10C>T
ENST00000590294.6:n.1174-10C>T
ENST00000592481.6:c.372-10C>T	ENSP00000502589.1:n.372-10C>T
ENST00000675703.1:n.294-10C>T
ENST00000329047.12:c.1071-10C>T	ENSP00000329161.8:n.1071-10C>T
ENST00000423034.6:c.1104-10C>T	ENSP00000405877.1:n.1104-10C>T
ENST00000427177.5:c.1125-10C>T	ENSP00000391249.1:n.1125-10C>T
ENST00000427180.5:c.789-10C>T	ENSP00000415624.1:n.789-10C>T
ENST00000427674.6:c.633-10C>T	ENSP00000403194.1:n.633-10C>T
ENST00000431235.6:c.633-10C>T	ENSP00000406987.2:n.633-10C>T
ENST00000449803.6:c.633-10C>T	ENSP00000400181.2:n.633-10C>T
ENST00000541152.6:c.372-10C>T	ENSP00000438089.2:n.372-10C>T
ENST00000585638.1:c.372-10C>T	ENSP00000466115.1:n.372-10C>T
ENST00000585929.5:c.372-10C>T	ENSP00000467780.1:n.372-10C>T
ENST00000585930.5:c.453-10C>T	ENSP00000468120.1:n.453-10C>T
ENST00000586433.5:c.372-10C>T	ENSP00000468110.1:n.372-10C>T
ENST00000588575.1:c.*76-10C>T	ENSP00000468090.1:n.*76-10C>T
ENST00000588690.5:c.633-10C>T	ENSP00000468668.1:n.633-10C>T
ENST00000588958.6:c.372-10C>T	ENSP00000464832.1:n.372-10C>T
ENST00000590294.5:c.1071-10C>T	ENSP00000465464.1:n.1071-10C>T
ENST00000590938.5:c.372-10C>T	ENSP00000466201.1:n.372-10C>T
ENST00000591020.5:c.372-10C>T	ENSP00000467908.1:n.372-10C>T
ENST00000591088.5:c.372-10C>T	ENSP00000466247.1:n.372-10C>T
ENST00000591198.5:c.1068-10C>T	ENSP00000468406.1:n.1068-10C>T
ENST00000591472.6:c.372-10C>T	ENSP00000468410.2:n.372-10C>T
ENST00000591704.5:c.372-10C>T	ENSP00000465415.1:n.372-10C>T
ENST00000592481.5:n.689-10C>T
ENST00000592951.5:c.372-10C>T	ENSP00000466648.1:n.372-10C>T
ENST00000593189.6:c.372-10C>T	ENSP00000465904.1:n.372-10C>T
NM_001113491.1:c.1125-10C>T	NP_001106963.1:n.1125-10C>T
NM_001113492.1:c.633-10C>T	NP_001106964.1:n.633-10C>T
NM_001113493.1:c.1104-10C>T	NP_001106965.1:n.1104-10C>T
NM_001113494.1:c.633-10C>T	NP_001106966.1:n.633-10C>T
NM_001113495.1:c.789-10C>T	NP_001106967.1:n.789-10C>T
NM_001113496.1:c.372-10C>T	NP_001106968.1:n.372-10C>T
NM_001293695.1:c.1068-10C>T	NP_001280624.1:n.1068-10C>T
NM_001293696.1:c.453-10C>T	NP_001280625.1:n.453-10C>T
NM_001293697.1:c.372-10C>T	NP_001280626.1:n.372-10C>T
NM_001293698.1:c.372-10C>T	NP_001280627.1:n.372-10C>T
NM_006640.4:c.1071-10C>T	NP_006631.2:n.1071-10C>T
XM_005256962.1:c.372-10C>T	XP_005257019.1:n.372-10C>T
XM_006721643.2:c.633-10C>T	XP_006721706.1:n.633-10C>T
XM_006721644.1:c.372-10C>T	XP_006721707.1:n.372-10C>T
XM_011524204.1:c.1218-10C>T	XP_011522506.1:n.1218-10C>T
XM_011524205.1:c.1215-10C>T	XP_011522507.1:n.1215-10C>T
XM_011524206.1:c.1080-10C>T	XP_011522508.1:n.1080-10C>T
XM_011524207.1:c.633-10C>T	XP_011522509.1:n.633-10C>T
XM_011524208.1:c.372-10C>T	XP_011522510.1:n.372-10C>T
XM_011524209.1:c.372-10C>T	XP_011522511.1:n.372-10C>T
NM_001113491.2:c.1125-10C>T MANE Select	NP_001106963.1:n.1125-10C>T
NM_001113493.2:c.1104-10C>T	NP_001106965.1:n.1104-10C>T
NM_001113496.2:c.372-10C>T	NP_001106968.1:n.372-10C>T
NM_001293695.2:c.1068-10C>T	NP_001280624.1:n.1068-10C>T
NM_001293696.2:c.453-10C>T	NP_001280625.1:n.453-10C>T
NM_001293697.2:c.372-10C>T	NP_001280626.1:n.372-10C>T
NM_001293698.2:c.372-10C>T	NP_001280627.1:n.372-10C>T
NM_001113492.2:c.633-10C>T	NP_001106964.1:n.633-10C>T
NM_001113495.2:c.372-10C>T	NP_001106967.2:n.372-10C>T
NM_006640.5:c.1071-10C>T MANE Plus Clinical	NP_006631.2:n.1071-10C>T