Canonical Allele Identifier: CA8738955
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1567694
ClinVar RCV Id: RCV002214948
dbSNP Id: rs146754673
ExAC: 17:70119019 C / T
gnomAD v2: 17-70119019-C-T
gnomAD v3: 17-72122878-C-T
gnomAD v4: 17-72122878-C-T
MyVariant Identifiers: chr17:g.70119019C>T (hg19) chr17:g.72122878C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122878C>T , CM000679.2:g.72122878C>T GRCh38
NC_000017.10:g.70119019C>T , CM000679.1:g.70119019C>T GRCh37
NC_000017.9:g.67630614C>T NCBI36
NG_012490.1:g.6859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.591C>T MANE Select ENSP00000245479.2:p.His197=
ENST00000245479.2:c.591C>T ENSP00000245479.2:p.His197=
NM_000346.3:c.591C>T NP_000337.1:p.His197=
NM_000346.4:c.591C>T MANE Select NP_000337.1:p.His197=
Search 100 bp 5'
Search 100 bp 3'