Canonical Allele Identifier: CA8739048

Gene: SOX9

Linked Data

• ClinVar Variation Id: 287275
• ClinVar RCV Id: RCV000392851 ; RCV003957481 ; RCV003603048
• dbSNP Id: rs367966473
• ExAC: 17:70119916 G / A
• gnomAD v2: 17-70119916-G-A
• gnomAD v3: 17-72123775-G-A
• gnomAD v4: 17-72123775-G-A
• MyVariant Identifiers: chr17:g.70119916G>A (hg19) ; chr17:g.72123775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123775G>A , CM000679.2:g.72123775G>A	GRCh38
NC_000017.10:g.70119916G>A , CM000679.1:g.70119916G>A	GRCh37
NC_000017.9:g.67631511G>A	NCBI36
NG_012490.1:g.7756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.918G>A MANE Select	ENSP00000245479.2:p.Val306=
ENST00000245479.2:c.918G>A	ENSP00000245479.2:p.Val306=
NM_000346.3:c.918G>A	NP_000337.1:p.Val306=
NM_000346.4:c.918G>A MANE Select	NP_000337.1:p.Val306=