Canonical Allele Identifier: CA10651135

Gene: SEPTIN9

Linked Data

• ClinVar Variation Id: 325528
• ClinVar RCV Id: RCV000370039
• dbSNP Id: rs370236963
• gnomAD v2: 17-75315641-T-G
• gnomAD v3: 17-77319559-T-G
• gnomAD v4: 17-77319559-T-G
• MyVariant Identifiers: chr17:g.75315641T>G (hg19) ; chr17:g.77319559T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319559T>G , CM000679.2:g.77319559T>G	GRCh38
NC_000017.10:g.75315641T>G , CM000679.1:g.75315641T>G	GRCh37
NC_000017.9:g.72827236T>G	NCBI36
NG_011683.1:g.43150T>G
NG_011683.2:g.43150T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.-768T>G MANE Plus Clinical	ENSP00000329161.8:n.-768T>G
ENST00000427177.6:c.76+12362T>G MANE Select	ENSP00000391249.1:n.76+12362T>G
ENST00000329047.12:c.-768T>G	ENSP00000329161.8:n.-768T>G
ENST00000427177.5:c.76+12362T>G	ENSP00000391249.1:n.76+12362T>G
ENST00000431235.6:c.-417+12362T>G	ENSP00000406987.2:n.-417+12362T>G
ENST00000449803.6:c.-417+12362T>G	ENSP00000400181.2:n.-417+12362T>G
ENST00000587237.1:n.406+12362T>G
ENST00000589070.1:c.31+38753T>G	ENSP00000465332.1:n.31+38753T>G
ENST00000590294.5:c.-768T>G	ENSP00000465464.1:n.-768T>G
ENST00000590576.5:c.*76+12362T>G	ENSP00000465600.1:n.*76+12362T>G
ENST00000591198.5:c.19+38005T>G	ENSP00000468406.1:n.19+38005T>G
ENST00000591833.5:c.*71+12362T>G	ENSP00000466684.1:n.*71+12362T>G
NM_001113491.1:c.76+12362T>G	NP_001106963.1:n.76+12362T>G
NM_001113492.1:c.-417+12362T>G	NP_001106964.1:n.-417+12362T>G
NM_001293695.1:c.19+38005T>G	NP_001280624.1:n.19+38005T>G
NM_006640.4:c.-768T>G	NP_006631.2:n.-768T>G
XM_006721643.2:c.-417+12362T>G	XP_006721706.1:n.-417+12362T>G
XM_011524204.1:c.169+12362T>G	XP_011522506.1:n.169+12362T>G
XM_011524205.1:c.166+12362T>G	XP_011522507.1:n.166+12362T>G
NM_001113491.2:c.76+12362T>G MANE Select	NP_001106963.1:n.76+12362T>G
NM_001293695.2:c.19+38005T>G	NP_001280624.1:n.19+38005T>G
NM_001113492.2:c.-417+12362T>G	NP_001106964.1:n.-417+12362T>G
NM_006640.5:c.-768T>G MANE Plus Clinical	NP_006631.2:n.-768T>G