Canonical Allele Identifier: CA502069663

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 2445570
• ClinVar RCV Id: RCV003154979
• dbSNP Id: rs2035923641
• gnomAD v3: 17-77402213-T-C
• gnomAD v4: 17-77402213-T-C
• MyVariant Identifiers: chr17:g.75398295T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402213T>C , CM000679.2:g.77402213T>C	GRCh38
NC_000017.10:g.75398295T>C , CM000679.1:g.75398295T>C	GRCh37
NC_000017.9:g.72909890T>C	NCBI36
NG_011683.1:g.125804T>C
NG_011683.2:g.125804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.177T>C MANE Plus Clinical	ENSP00000329161.8:p.His59=
ENST00000427177.6:c.231T>C MANE Select	ENSP00000391249.1:p.His77=
ENST00000588690.6:c.-262T>C	ENSP00000468668.1:n.-262T>C
ENST00000590294.6:n.280T>C
ENST00000329047.12:c.177T>C	ENSP00000329161.8:p.His59=
ENST00000423034.6:c.210T>C	ENSP00000405877.1:p.His70=
ENST00000427177.5:c.231T>C	ENSP00000391249.1:p.His77=
ENST00000427674.6:c.-262T>C	ENSP00000403194.1:n.-262T>C
ENST00000431235.6:c.-262T>C	ENSP00000406987.2:n.-262T>C
ENST00000449803.6:c.-262T>C	ENSP00000400181.2:n.-262T>C
ENST00000586812.1:n.290T>C
ENST00000587514.1:n.360T>C
ENST00000588575.1:c.37-124T>C	ENSP00000468090.1:n.37-124T>C
ENST00000588690.5:c.-262T>C	ENSP00000468668.1:n.-262T>C
ENST00000589070.1:c.186T>C	ENSP00000465332.1:p.His62=
ENST00000589140.1:c.186T>C	ENSP00000466997.1:p.His62=
ENST00000590059.5:c.25-343T>C	ENSP00000466164.1:n.25-343T>C
ENST00000590294.5:c.177T>C	ENSP00000465464.1:p.His59=
ENST00000590576.5:c.*231T>C	ENSP00000465600.1:n.*231T>C
ENST00000590586.1:n.336T>C
ENST00000590595.1:c.37-124T>C	ENSP00000465026.1:n.37-124T>C
ENST00000590825.1:c.-262T>C	ENSP00000468244.1:n.-262T>C
ENST00000591198.5:c.174T>C	ENSP00000468406.1:p.His58=
ENST00000591833.5:c.*226T>C	ENSP00000466684.1:n.*226T>C
ENST00000591934.1:c.252T>C	ENSP00000468504.1:p.His84=
ENST00000592098.1:n.261T>C
ENST00000592420.1:c.-343T>C	ENSP00000467051.1:n.-343T>C
NM_001113491.1:c.231T>C	NP_001106963.1:p.His77=
NM_001113492.1:c.-262T>C	NP_001106964.1:n.-262T>C
NM_001113493.1:c.210T>C	NP_001106965.1:p.His70=
NM_001113494.1:c.-262T>C	NP_001106966.1:n.-262T>C
NM_001293695.1:c.174T>C	NP_001280624.1:p.His58=
NM_006640.4:c.177T>C	NP_006631.2:p.His59=
XM_006721643.2:c.-262T>C	XP_006721706.1:n.-262T>C
XM_011524204.1:c.324T>C	XP_011522506.1:p.His108=
XM_011524205.1:c.321T>C	XP_011522507.1:p.His107=
XM_011524206.1:c.186T>C	XP_011522508.1:p.His62=
XM_011524207.1:c.-262T>C	XP_011522509.1:n.-262T>C
NM_001113491.2:c.231T>C MANE Select	NP_001106963.1:p.His77=
NM_001113493.2:c.210T>C	NP_001106965.1:p.His70=
NM_001293695.2:c.174T>C	NP_001280624.1:p.His58=
NM_001113492.2:c.-262T>C	NP_001106964.1:n.-262T>C
NM_006640.5:c.177T>C MANE Plus Clinical	NP_006631.2:p.His59=