Canonical Allele Identifier: CA8793853

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 325566
• ClinVar RCV Id: RCV000408064 ; RCV000958232 ; RCV001287943
• dbSNP Id: rs192537441
• ExAC: 17:75493387 C / T
• gnomAD v2: 17-75493387-C-T
• gnomAD v3: 17-77497305-C-T
• gnomAD v4: 17-77497305-C-T
• MyVariant Identifiers: chr17:g.75493387C>T (hg19) ; chr17:g.77497305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77497305C>T , CM000679.2:g.77497305C>T	GRCh38
NC_000017.10:g.75493387C>T , CM000679.1:g.75493387C>T	GRCh37
NC_000017.9:g.73004982C>T	NCBI36
NG_011683.1:g.220896C>T
NG_011683.2:g.220896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.1520-10C>T MANE Plus Clinical	ENSP00000329161.8:n.1520-10C>T
ENST00000427177.6:c.1574-10C>T MANE Select	ENSP00000391249.1:n.1574-10C>T
ENST00000588690.6:c.1082-10C>T	ENSP00000468668.1:n.1082-10C>T
ENST00000592481.6:c.*124-10C>T	ENSP00000502589.1:n.*124-10C>T
ENST00000329047.12:c.1520-10C>T	ENSP00000329161.8:n.1520-10C>T
ENST00000423034.6:c.1553-10C>T	ENSP00000405877.1:n.1553-10C>T
ENST00000427177.5:c.1574-10C>T	ENSP00000391249.1:n.1574-10C>T
ENST00000427180.5:c.1238-10C>T	ENSP00000415624.1:n.1238-10C>T
ENST00000427674.6:c.1082-10C>T	ENSP00000403194.1:n.1082-10C>T
ENST00000431235.6:c.1082-10C>T	ENSP00000406987.2:n.1082-10C>T
ENST00000449803.6:c.1082-10C>T	ENSP00000400181.2:n.1082-10C>T
ENST00000541152.6:c.821-10C>T	ENSP00000438089.2:n.821-10C>T
ENST00000585930.5:c.902-10C>T	ENSP00000468120.1:n.902-10C>T
ENST00000586456.1:n.246-10C>T
ENST00000588690.5:c.1082-10C>T	ENSP00000468668.1:n.1082-10C>T
ENST00000589246.1:n.231C>T
ENST00000590294.5:c.1520-10C>T	ENSP00000465464.1:n.1520-10C>T
ENST00000591088.5:c.821-10C>T	ENSP00000466247.1:n.821-10C>T
ENST00000591198.5:c.1517-10C>T	ENSP00000468406.1:n.1517-10C>T
ENST00000592951.5:c.821-10C>T	ENSP00000466648.1:n.821-10C>T
NM_001113491.1:c.1574-10C>T	NP_001106963.1:n.1574-10C>T
NM_001113492.1:c.1082-10C>T	NP_001106964.1:n.1082-10C>T
NM_001113493.1:c.1553-10C>T	NP_001106965.1:n.1553-10C>T
NM_001113494.1:c.1082-10C>T	NP_001106966.1:n.1082-10C>T
NM_001113495.1:c.1238-10C>T	NP_001106967.1:n.1238-10C>T
NM_001113496.1:c.821-10C>T	NP_001106968.1:n.821-10C>T
NM_001293695.1:c.1517-10C>T	NP_001280624.1:n.1517-10C>T
NM_001293696.1:c.902-10C>T	NP_001280625.1:n.902-10C>T
NM_001293697.1:c.821-10C>T	NP_001280626.1:n.821-10C>T
NM_001293698.1:c.821-10C>T	NP_001280627.1:n.821-10C>T
NM_006640.4:c.1520-10C>T	NP_006631.2:n.1520-10C>T
XM_005256962.1:c.821-10C>T	XP_005257019.1:n.821-10C>T
XM_006721643.2:c.1082-10C>T	XP_006721706.1:n.1082-10C>T
XM_006721644.1:c.821-10C>T	XP_006721707.1:n.821-10C>T
XM_011524204.1:c.1667-10C>T	XP_011522506.1:n.1667-10C>T
XM_011524205.1:c.1664-10C>T	XP_011522507.1:n.1664-10C>T
XM_011524206.1:c.1529-10C>T	XP_011522508.1:n.1529-10C>T
XM_011524207.1:c.1082-10C>T	XP_011522509.1:n.1082-10C>T
XM_011524208.1:c.821-10C>T	XP_011522510.1:n.821-10C>T
XM_011524209.1:c.821-10C>T	XP_011522511.1:n.821-10C>T
NM_001113491.2:c.1574-10C>T MANE Select	NP_001106963.1:n.1574-10C>T
NM_001113493.2:c.1553-10C>T	NP_001106965.1:n.1553-10C>T
NM_001113496.2:c.821-10C>T	NP_001106968.1:n.821-10C>T
NM_001293695.2:c.1517-10C>T	NP_001280624.1:n.1517-10C>T
NM_001293696.2:c.902-10C>T	NP_001280625.1:n.902-10C>T
NM_001293697.2:c.821-10C>T	NP_001280626.1:n.821-10C>T
NM_001293698.2:c.821-10C>T	NP_001280627.1:n.821-10C>T
NM_001113492.2:c.1082-10C>T	NP_001106964.1:n.1082-10C>T
NM_001113495.2:c.821-10C>T	NP_001106967.2:n.821-10C>T
NM_006640.5:c.1520-10C>T MANE Plus Clinical	NP_006631.2:n.1520-10C>T