Canonical Allele Identifier: CA8739096
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081422
ClinVar RCV Id: RCV002979712 RCV002994276
dbSNP Id: rs542727010
ExAC: 17:70120097 C / G
gnomAD v2: 17-70120097-C-G
gnomAD v3: 17-72123956-C-G
gnomAD v4: 17-72123956-C-G
MyVariant Identifiers: chr17:g.70120097C>G (hg19) chr17:g.72123956C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123956C>G , CM000679.2:g.72123956C>G GRCh38
NC_000017.10:g.70120097C>G , CM000679.1:g.70120097C>G GRCh37
NC_000017.9:g.67631692C>G NCBI36
NG_012490.1:g.7937C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1099C>G MANE Select ENSP00000245479.2:p.Pro367Ala
ENST00000245479.2:c.1099C>G ENSP00000245479.2:p.Pro367Ala
NM_000346.3:c.1099C>G NP_000337.1:p.Pro367Ala
NM_000346.4:c.1099C>G MANE Select NP_000337.1:p.Pro367Ala
Search 100 bp 5'
Search 100 bp 3'