Canonical Allele Identifier: CA645598847

Gene: SOX9

Linked Data

• COSMIC: COSM4729234

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72124229dup , CM000679.2:g.72124229dup	GRCh38
NC_000017.10:g.70120370dup , CM000679.1:g.70120370dup	GRCh37
NC_000017.9:g.67631965dup	NCBI36
NG_012490.1:g.8210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1372dup MANE Select	ENSP00000245479.2:p.Gln458ProfsTer?
ENST00000245479.2:c.1372dup	ENSP00000245479.2:p.Gln458ProfsTer?
NM_000346.3:c.1372dup	NP_000337.1:p.Gln458ProfsTer?
NM_000346.4:c.1372dup MANE Select	NP_000337.1:p.Gln458ProfsTer?