Canonical Allele Identifier: CA294282799

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs960214370
• gnomAD v4: 17-77402278-A-G
• MyVariant Identifiers: chr17:g.75398360A>G (hg19) ; chr17:g.77402278A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402278A>G , CM000679.2:g.77402278A>G	GRCh38
NC_000017.10:g.75398360A>G , CM000679.1:g.75398360A>G	GRCh37
NC_000017.9:g.72909955A>G	NCBI36
NG_011683.1:g.125869A>G
NG_011683.2:g.125869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.242A>G MANE Plus Clinical	ENSP00000329161.8:p.Lys81Arg
ENST00000427177.6:c.296A>G MANE Select	ENSP00000391249.1:p.Lys99Arg
ENST00000588690.6:c.-197A>G	ENSP00000468668.1:n.-197A>G
ENST00000590294.6:n.345A>G
ENST00000329047.12:c.242A>G	ENSP00000329161.8:p.Lys81Arg
ENST00000423034.6:c.275A>G	ENSP00000405877.1:p.Lys92Arg
ENST00000427177.5:c.296A>G	ENSP00000391249.1:p.Lys99Arg
ENST00000427674.6:c.-197A>G	ENSP00000403194.1:n.-197A>G
ENST00000431235.6:c.-197A>G	ENSP00000406987.2:n.-197A>G
ENST00000449803.6:c.-197A>G	ENSP00000400181.2:n.-197A>G
ENST00000586812.1:n.355A>G
ENST00000587514.1:n.425A>G
ENST00000588575.1:c.37-59A>G	ENSP00000468090.1:n.37-59A>G
ENST00000588690.5:c.-197A>G	ENSP00000468668.1:n.-197A>G
ENST00000589070.1:c.251A>G	ENSP00000465332.1:p.Lys84Arg
ENST00000589140.1:c.251A>G	ENSP00000466997.1:p.Lys84Arg
ENST00000590059.5:c.25-278A>G	ENSP00000466164.1:n.25-278A>G
ENST00000590294.5:c.242A>G	ENSP00000465464.1:p.Lys81Arg
ENST00000590576.5:c.*296A>G	ENSP00000465600.1:n.*296A>G
ENST00000590586.1:n.401A>G
ENST00000590595.1:c.37-59A>G	ENSP00000465026.1:n.37-59A>G
ENST00000590825.1:c.-197A>G	ENSP00000468244.1:n.-197A>G
ENST00000591198.5:c.239A>G	ENSP00000468406.1:p.Lys80Arg
ENST00000591833.5:c.*291A>G	ENSP00000466684.1:n.*291A>G
ENST00000591934.1:c.317A>G	ENSP00000468504.1:p.Lys106Arg
ENST00000592098.1:n.326A>G
ENST00000592420.1:c.-278A>G	ENSP00000467051.1:n.-278A>G
NM_001113491.1:c.296A>G	NP_001106963.1:p.Lys99Arg
NM_001113492.1:c.-197A>G	NP_001106964.1:n.-197A>G
NM_001113493.1:c.275A>G	NP_001106965.1:p.Lys92Arg
NM_001113494.1:c.-197A>G	NP_001106966.1:n.-197A>G
NM_001293695.1:c.239A>G	NP_001280624.1:p.Lys80Arg
NM_006640.4:c.242A>G	NP_006631.2:p.Lys81Arg
XM_006721643.2:c.-197A>G	XP_006721706.1:n.-197A>G
XM_011524204.1:c.389A>G	XP_011522506.1:p.Lys130Arg
XM_011524205.1:c.386A>G	XP_011522507.1:p.Lys129Arg
XM_011524206.1:c.251A>G	XP_011522508.1:p.Lys84Arg
XM_011524207.1:c.-197A>G	XP_011522509.1:n.-197A>G
NM_001113491.2:c.296A>G MANE Select	NP_001106963.1:p.Lys99Arg
NM_001113493.2:c.275A>G	NP_001106965.1:p.Lys92Arg
NM_001293695.2:c.239A>G	NP_001280624.1:p.Lys80Arg
NM_001113492.2:c.-197A>G	NP_001106964.1:n.-197A>G
NM_006640.5:c.242A>G MANE Plus Clinical	NP_006631.2:p.Lys81Arg