Canonical Allele Identifier: CA400867544

Gene: SOX9

Linked Data

• ClinVar Variation Id: 489071
• ClinVar RCV Id: RCV000578794 ; RCV002530370
• dbSNP Id: rs1339655148
• gnomAD v2: 17-70120016-C-T
• gnomAD v4: 17-72123875-C-T
• MyVariant Identifiers: chr17:g.70120016C>T (hg19) ; chr17:g.72123875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123875C>T , CM000679.2:g.72123875C>T	GRCh38
NC_000017.10:g.70120016C>T , CM000679.1:g.70120016C>T	GRCh37
NC_000017.9:g.67631611C>T	NCBI36
NG_012490.1:g.7856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1018C>T MANE Select	ENSP00000245479.2:p.Gln340Ter
ENST00000245479.2:c.1018C>T	ENSP00000245479.2:p.Gln340Ter
NM_000346.3:c.1018C>T	NP_000337.1:p.Gln340Ter
NM_000346.4:c.1018C>T MANE Select	NP_000337.1:p.Gln340Ter