Canonical Allele Identifier: CA400866990
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699620
ClinVar RCV Id: RCV003498203
dbSNP Id: rs1296808008
COSMIC: COSM4729219
MyVariant Identifiers: chr17:g.70119758C>T (hg19) chr17:g.72123617C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123617C>T , CM000679.2:g.72123617C>T GRCh38
NC_000017.10:g.70119758C>T , CM000679.1:g.70119758C>T GRCh37
NC_000017.9:g.67631353C>T NCBI36
NG_012490.1:g.7598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.760C>T MANE Select ENSP00000245479.2:p.Arg254Ter
ENST00000245479.2:c.760C>T ENSP00000245479.2:p.Arg254Ter
NM_000346.3:c.760C>T NP_000337.1:p.Arg254Ter
NM_000346.4:c.760C>T MANE Select NP_000337.1:p.Arg254Ter
Search 100 bp 5'
Search 100 bp 3'