Canonical Allele Identifier: CA8794021

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 325592
• ClinVar RCV Id: RCV000363814
• dbSNP Id: rs9038
• ExAC: 17:75495397 T / C
• gnomAD v2: 17-75495397-T-C
• gnomAD v3: 17-77499315-T-C
• gnomAD v4: 17-77499315-T-C
• MyVariant Identifiers: chr17:g.75495397T>C (hg19) ; chr17:g.77499315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77499315T>C , CM000679.2:g.77499315T>C	GRCh38
NC_000017.10:g.75495397T>C , CM000679.1:g.75495397T>C	GRCh37
NC_000017.9:g.73006992T>C	NCBI36
NG_011683.1:g.222906T>C
NG_011683.2:g.222906T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.*657T>C MANE Plus Clinical	ENSP00000329161.8:n.*657T>C
ENST00000427177.6:c.*657T>C MANE Select	ENSP00000391249.1:n.*657T>C
ENST00000329047.12:c.*657T>C	ENSP00000329161.8:n.*657T>C
ENST00000423034.6:c.*657T>C	ENSP00000405877.1:n.*657T>C
ENST00000427177.5:c.*657T>C	ENSP00000391249.1:n.*657T>C
ENST00000427180.5:c.*657T>C	ENSP00000415624.1:n.*657T>C
ENST00000427674.6:c.*657T>C	ENSP00000403194.1:n.*657T>C
ENST00000431235.6:c.*657T>C	ENSP00000406987.2:n.*657T>C
ENST00000449803.6:c.*657T>C	ENSP00000400181.2:n.*657T>C
ENST00000541152.6:c.*657T>C	ENSP00000438089.2:n.*657T>C
ENST00000588690.5:c.*657T>C	ENSP00000468668.1:n.*657T>C
ENST00000590294.5:c.*107+550T>C	ENSP00000465464.1:n.*107+550T>C
NM_001113491.1:c.*657T>C	NP_001106963.1:n.*657T>C
NM_001113492.1:c.*657T>C	NP_001106964.1:n.*657T>C
NM_001113493.1:c.*657T>C	NP_001106965.1:n.*657T>C
NM_001113494.1:c.*657T>C	NP_001106966.1:n.*657T>C
NM_001113495.1:c.*657T>C	NP_001106967.1:n.*657T>C
NM_001113496.1:c.*657T>C	NP_001106968.1:n.*657T>C
NM_001293695.1:c.*657T>C	NP_001280624.1:n.*657T>C
NM_001293696.1:c.*657T>C	NP_001280625.1:n.*657T>C
NM_001293697.1:c.*657T>C	NP_001280626.1:n.*657T>C
NM_001293698.1:c.*657T>C	NP_001280627.1:n.*657T>C
NM_006640.4:c.*657T>C	NP_006631.2:n.*657T>C
XM_005256962.1:c.*657T>C	XP_005257019.1:n.*657T>C
XM_006721643.2:c.*657T>C	XP_006721706.1:n.*657T>C
XM_006721644.1:c.*657T>C	XP_006721707.1:n.*657T>C
XM_011524204.1:c.*657T>C	XP_011522506.1:n.*657T>C
XM_011524205.1:c.*657T>C	XP_011522507.1:n.*657T>C
XM_011524206.1:c.*657T>C	XP_011522508.1:n.*657T>C
XM_011524207.1:c.*657T>C	XP_011522509.1:n.*657T>C
XM_011524208.1:c.*657T>C	XP_011522510.1:n.*657T>C
XM_011524209.1:c.*657T>C	XP_011522511.1:n.*657T>C
NM_001113491.2:c.*657T>C MANE Select	NP_001106963.1:n.*657T>C
NM_001113493.2:c.*657T>C	NP_001106965.1:n.*657T>C
NM_001113496.2:c.*657T>C	NP_001106968.1:n.*657T>C
NM_001293695.2:c.*657T>C	NP_001280624.1:n.*657T>C
NM_001293696.2:c.*657T>C	NP_001280625.1:n.*657T>C
NM_001293697.2:c.*657T>C	NP_001280626.1:n.*657T>C
NM_001293698.2:c.*657T>C	NP_001280627.1:n.*657T>C
NM_001113492.2:c.*657T>C	NP_001106964.1:n.*657T>C
NM_001113495.2:c.*657T>C	NP_001106967.2:n.*657T>C
NM_006640.5:c.*657T>C MANE Plus Clinical	NP_006631.2:n.*657T>C