Canonical Allele Identifier: CA501351974

Gene: SOX9

Linked Data

• ClinVar Variation Id: 695192
• ClinVar RCV Id: RCV000860552 ; RCV001701323
• dbSNP Id: rs1305561578
• gnomAD v2: 17-70119709-A-C
• gnomAD v3: 17-72123568-A-C
• gnomAD v4: 17-72123568-A-C
• MyVariant Identifiers: chr17:g.70119709A>C (hg19) ; chr17:g.72123568A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123568A>C , CM000679.2:g.72123568A>C	GRCh38
NC_000017.10:g.70119709A>C , CM000679.1:g.70119709A>C	GRCh37
NC_000017.9:g.67631304A>C	NCBI36
NG_012490.1:g.7549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.711A>C MANE Select	ENSP00000245479.2:p.Pro237=
ENST00000245479.2:c.711A>C	ENSP00000245479.2:p.Pro237=
NM_000346.3:c.711A>C	NP_000337.1:p.Pro237=
NM_000346.4:c.711A>C MANE Select	NP_000337.1:p.Pro237=