Canonical Allele Identifier: CA401206045

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs765373402
• gnomAD v2: 17-75398441-G-T
• gnomAD v4: 17-77402359-G-T
• MyVariant Identifiers: chr17:g.75398441G>T (hg19) ; chr17:g.77402359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77402359G>T , CM000679.2:g.77402359G>T	GRCh38
NC_000017.10:g.75398441G>T , CM000679.1:g.75398441G>T	GRCh37
NC_000017.9:g.72910036G>T	NCBI36
NG_011683.1:g.125950G>T
NG_011683.2:g.125950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.323G>T MANE Plus Clinical	ENSP00000329161.8:p.Gly108Val
ENST00000427177.6:c.377G>T MANE Select	ENSP00000391249.1:p.Gly126Val
ENST00000588690.6:c.-116G>T	ENSP00000468668.1:n.-116G>T
ENST00000590294.6:n.426G>T
ENST00000329047.12:c.323G>T	ENSP00000329161.8:p.Gly108Val
ENST00000423034.6:c.356G>T	ENSP00000405877.1:p.Gly119Val
ENST00000427177.5:c.377G>T	ENSP00000391249.1:p.Gly126Val
ENST00000427674.6:c.-116G>T	ENSP00000403194.1:n.-116G>T
ENST00000431235.6:c.-116G>T	ENSP00000406987.2:n.-116G>T
ENST00000449803.6:c.-116G>T	ENSP00000400181.2:n.-116G>T
ENST00000586812.1:n.436G>T
ENST00000587514.1:n.506G>T
ENST00000588575.1:c.59G>T	ENSP00000468090.1:p.Gly20Val
ENST00000588690.5:c.-116G>T	ENSP00000468668.1:n.-116G>T
ENST00000589070.1:c.332G>T	ENSP00000465332.1:p.Gly111Val
ENST00000589140.1:c.332G>T	ENSP00000466997.1:p.Gly111Val
ENST00000590059.5:c.25-197G>T	ENSP00000466164.1:n.25-197G>T
ENST00000590294.5:c.323G>T	ENSP00000465464.1:p.Gly108Val
ENST00000590576.5:c.*377G>T	ENSP00000465600.1:n.*377G>T
ENST00000590586.1:n.482G>T
ENST00000590595.1:c.59G>T	ENSP00000465026.1:p.Gly20Val
ENST00000590825.1:c.-116G>T	ENSP00000468244.1:n.-116G>T
ENST00000591198.5:c.320G>T	ENSP00000468406.1:p.Gly107Val
ENST00000591934.1:c.398G>T	ENSP00000468504.1:p.Gly133Val
ENST00000592098.1:n.407G>T
ENST00000592420.1:c.-197G>T	ENSP00000467051.1:n.-197G>T
NM_001113491.1:c.377G>T	NP_001106963.1:p.Gly126Val
NM_001113492.1:c.-116G>T	NP_001106964.1:n.-116G>T
NM_001113493.1:c.356G>T	NP_001106965.1:p.Gly119Val
NM_001113494.1:c.-116G>T	NP_001106966.1:n.-116G>T
NM_001293695.1:c.320G>T	NP_001280624.1:p.Gly107Val
NM_006640.4:c.323G>T	NP_006631.2:p.Gly108Val
XM_006721643.2:c.-116G>T	XP_006721706.1:n.-116G>T
XM_011524204.1:c.470G>T	XP_011522506.1:p.Gly157Val
XM_011524205.1:c.467G>T	XP_011522507.1:p.Gly156Val
XM_011524206.1:c.332G>T	XP_011522508.1:p.Gly111Val
XM_011524207.1:c.-116G>T	XP_011522509.1:n.-116G>T
NM_001113491.2:c.377G>T MANE Select	NP_001106963.1:p.Gly126Val
NM_001113493.2:c.356G>T	NP_001106965.1:p.Gly119Val
NM_001293695.2:c.320G>T	NP_001280624.1:p.Gly107Val
NM_001113492.2:c.-116G>T	NP_001106964.1:n.-116G>T
NM_006640.5:c.323G>T MANE Plus Clinical	NP_006631.2:p.Gly108Val