Canonical Allele Identifier: CA293783383

Gene: SOX9

Linked Data

• ClinVar Variation Id: 1625037
• ClinVar RCV Id: RCV002106547
• dbSNP Id: rs201477430
• gnomAD v2: 17-70119815-G-C
• gnomAD v3: 17-72123674-G-C
• gnomAD v4: 17-72123674-G-C
• MyVariant Identifiers: chr17:g.70119815G>C (hg19) ; chr17:g.72123674G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123674G>C , CM000679.2:g.72123674G>C	GRCh38
NC_000017.10:g.70119815G>C , CM000679.1:g.70119815G>C	GRCh37
NC_000017.9:g.67631410G>C	NCBI36
NG_012490.1:g.7655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.817G>C MANE Select	ENSP00000245479.2:p.Val273Leu
ENST00000245479.2:c.817G>C	ENSP00000245479.2:p.Val273Leu
NM_000346.3:c.817G>C	NP_000337.1:p.Val273Leu
NM_000346.4:c.817G>C MANE Select	NP_000337.1:p.Val273Leu