Canonical Allele Identifier: CA8793132

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 710509
• ClinVar RCV Id: RCV000882100 ; RCV002245721
• dbSNP Id: rs189537244
• ExAC: 17:75398205 C / G
• gnomAD v2: 17-75398205-C-G
• gnomAD v3: 17-77402123-C-G
• gnomAD v4: 17-77402123-C-G
• MyVariant Identifiers: chr17:g.75398205C>G (hg19) ; chr17:g.77402123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402123C>G , CM000679.2:g.77402123C>G	GRCh38
NC_000017.10:g.75398205C>G , CM000679.1:g.75398205C>G	GRCh37
NC_000017.9:g.72909800C>G	NCBI36
NG_011683.1:g.125714C>G
NG_011683.2:g.125714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.87C>G MANE Plus Clinical	ENSP00000329161.8:p.Val29=
ENST00000427177.6:c.141C>G MANE Select	ENSP00000391249.1:p.Val47=
ENST00000588690.6:c.-352C>G	ENSP00000468668.1:n.-352C>G
ENST00000590294.6:n.190C>G
ENST00000329047.12:c.87C>G	ENSP00000329161.8:p.Val29=
ENST00000423034.6:c.120C>G	ENSP00000405877.1:p.Val40=
ENST00000427177.5:c.141C>G	ENSP00000391249.1:p.Val47=
ENST00000427674.6:c.-352C>G	ENSP00000403194.1:n.-352C>G
ENST00000431235.6:c.-352C>G	ENSP00000406987.2:n.-352C>G
ENST00000449803.6:c.-352C>G	ENSP00000400181.2:n.-352C>G
ENST00000586812.1:n.200C>G
ENST00000587237.1:n.471C>G
ENST00000587514.1:n.270C>G
ENST00000588575.1:c.37-214C>G	ENSP00000468090.1:n.37-214C>G
ENST00000588690.5:c.-352C>G	ENSP00000468668.1:n.-352C>G
ENST00000589070.1:c.96C>G	ENSP00000465332.1:p.Val32=
ENST00000589140.1:c.96C>G	ENSP00000466997.1:p.Val32=
ENST00000590059.5:c.25-433C>G	ENSP00000466164.1:n.25-433C>G
ENST00000590294.5:c.87C>G	ENSP00000465464.1:p.Val29=
ENST00000590576.5:c.*141C>G	ENSP00000465600.1:n.*141C>G
ENST00000590586.1:n.246C>G
ENST00000590595.1:c.37-214C>G	ENSP00000465026.1:n.37-214C>G
ENST00000590825.1:c.-352C>G	ENSP00000468244.1:n.-352C>G
ENST00000591198.5:c.84C>G	ENSP00000468406.1:p.Val28=
ENST00000591833.5:c.*136C>G	ENSP00000466684.1:n.*136C>G
ENST00000591934.1:c.162C>G	ENSP00000468504.1:p.Val54=
ENST00000592098.1:n.171C>G
ENST00000592420.1:c.-433C>G	ENSP00000467051.1:n.-433C>G
NM_001113491.1:c.141C>G	NP_001106963.1:p.Val47=
NM_001113492.1:c.-352C>G	NP_001106964.1:n.-352C>G
NM_001113493.1:c.120C>G	NP_001106965.1:p.Val40=
NM_001113494.1:c.-352C>G	NP_001106966.1:n.-352C>G
NM_001293695.1:c.84C>G	NP_001280624.1:p.Val28=
NM_006640.4:c.87C>G	NP_006631.2:p.Val29=
XM_006721643.2:c.-352C>G	XP_006721706.1:n.-352C>G
XM_011524204.1:c.234C>G	XP_011522506.1:p.Val78=
XM_011524205.1:c.231C>G	XP_011522507.1:p.Val77=
XM_011524206.1:c.96C>G	XP_011522508.1:p.Val32=
XM_011524207.1:c.-352C>G	XP_011522509.1:n.-352C>G
NM_001113491.2:c.141C>G MANE Select	NP_001106963.1:p.Val47=
NM_001113493.2:c.120C>G	NP_001106965.1:p.Val40=
NM_001293695.2:c.84C>G	NP_001280624.1:p.Val28=
NM_001113492.2:c.-352C>G	NP_001106964.1:n.-352C>G
NM_006640.5:c.87C>G MANE Plus Clinical	NP_006631.2:p.Val29=