Canonical Allele Identifier: CA8739096

Gene: SOX9

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)

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