Canonical Allele Identifier: CA401205969

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 2648329
• ClinVar RCV Id: RCV003421511
• dbSNP Id: rs1414985906
• gnomAD v2: 17-75398404-A-T
• gnomAD v3: 17-77402322-A-T
• gnomAD v4: 17-77402322-A-T
• MyVariant Identifiers: chr17:g.75398404A>T (hg19) ; chr17:g.77402322A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402322A>T , CM000679.2:g.77402322A>T	GRCh38
NC_000017.10:g.75398404A>T , CM000679.1:g.75398404A>T	GRCh37
NC_000017.9:g.72909999A>T	NCBI36
NG_011683.1:g.125913A>T
NG_011683.2:g.125913A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.286A>T MANE Plus Clinical	ENSP00000329161.8:p.Ile96Phe
ENST00000427177.6:c.340A>T MANE Select	ENSP00000391249.1:p.Ile114Phe
ENST00000588690.6:c.-153A>T	ENSP00000468668.1:n.-153A>T
ENST00000590294.6:n.389A>T
ENST00000329047.12:c.286A>T	ENSP00000329161.8:p.Ile96Phe
ENST00000423034.6:c.319A>T	ENSP00000405877.1:p.Ile107Phe
ENST00000427177.5:c.340A>T	ENSP00000391249.1:p.Ile114Phe
ENST00000427674.6:c.-153A>T	ENSP00000403194.1:n.-153A>T
ENST00000431235.6:c.-153A>T	ENSP00000406987.2:n.-153A>T
ENST00000449803.6:c.-153A>T	ENSP00000400181.2:n.-153A>T
ENST00000586812.1:n.399A>T
ENST00000587514.1:n.469A>T
ENST00000588575.1:c.37-15A>T	ENSP00000468090.1:n.37-15A>T
ENST00000588690.5:c.-153A>T	ENSP00000468668.1:n.-153A>T
ENST00000589070.1:c.295A>T	ENSP00000465332.1:p.Ile99Phe
ENST00000589140.1:c.295A>T	ENSP00000466997.1:p.Ile99Phe
ENST00000590059.5:c.25-234A>T	ENSP00000466164.1:n.25-234A>T
ENST00000590294.5:c.286A>T	ENSP00000465464.1:p.Ile96Phe
ENST00000590576.5:c.*340A>T	ENSP00000465600.1:n.*340A>T
ENST00000590586.1:n.445A>T
ENST00000590595.1:c.37-15A>T	ENSP00000465026.1:n.37-15A>T
ENST00000590825.1:c.-153A>T	ENSP00000468244.1:n.-153A>T
ENST00000591198.5:c.283A>T	ENSP00000468406.1:p.Ile95Phe
ENST00000591833.5:c.*335A>T	ENSP00000466684.1:n.*335A>T
ENST00000591934.1:c.361A>T	ENSP00000468504.1:p.Ile121Phe
ENST00000592098.1:n.370A>T
ENST00000592420.1:c.-234A>T	ENSP00000467051.1:n.-234A>T
NM_001113491.1:c.340A>T	NP_001106963.1:p.Ile114Phe
NM_001113492.1:c.-153A>T	NP_001106964.1:n.-153A>T
NM_001113493.1:c.319A>T	NP_001106965.1:p.Ile107Phe
NM_001113494.1:c.-153A>T	NP_001106966.1:n.-153A>T
NM_001293695.1:c.283A>T	NP_001280624.1:p.Ile95Phe
NM_006640.4:c.286A>T	NP_006631.2:p.Ile96Phe
XM_006721643.2:c.-153A>T	XP_006721706.1:n.-153A>T
XM_011524204.1:c.433A>T	XP_011522506.1:p.Ile145Phe
XM_011524205.1:c.430A>T	XP_011522507.1:p.Ile144Phe
XM_011524206.1:c.295A>T	XP_011522508.1:p.Ile99Phe
XM_011524207.1:c.-153A>T	XP_011522509.1:n.-153A>T
NM_001113491.2:c.340A>T MANE Select	NP_001106963.1:p.Ile114Phe
NM_001113493.2:c.319A>T	NP_001106965.1:p.Ile107Phe
NM_001293695.2:c.283A>T	NP_001280624.1:p.Ile95Phe
NM_001113492.2:c.-153A>T	NP_001106964.1:n.-153A>T
NM_006640.5:c.286A>T MANE Plus Clinical	NP_006631.2:p.Ile96Phe