Canonical Allele Identifier: CA16620598
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 423957
ClinVar RCV Id: RCV000485037
dbSNP Id: rs1064796718
COSMIC: COSM4069151
MyVariant Identifiers: chr17:g.70120416A>G (hg19) chr17:g.72124275A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124275A>G , CM000679.2:g.72124275A>G GRCh38
NC_000017.10:g.70120416A>G , CM000679.1:g.70120416A>G GRCh37
NC_000017.9:g.67632011A>G NCBI36
NG_012490.1:g.8256A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1418A>G MANE Select ENSP00000245479.2:p.Gln473Arg
ENST00000245479.2:c.1418A>G ENSP00000245479.2:p.Gln473Arg
NM_000346.3:c.1418A>G NP_000337.1:p.Gln473Arg
NM_000346.4:c.1418A>G MANE Select NP_000337.1:p.Gln473Arg
Search 100 bp 5'
Search 100 bp 3'