Canonical Allele Identifier: CA8739141
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 669152
ClinVar RCV Id: RCV000828159 RCV001089131
dbSNP Id: rs80338688
ExAC: 17:70120318 C / T
gnomAD v2: 17-70120318-C-T
gnomAD v3: 17-72124177-C-T
gnomAD v4: 17-72124177-C-T
MyVariant Identifiers: chr17:g.70120318C>T (hg19) chr17:g.72124177C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124177C>T , CM000679.2:g.72124177C>T GRCh38
NC_000017.10:g.70120318C>T , CM000679.1:g.70120318C>T GRCh37
NC_000017.9:g.67631913C>T NCBI36
NG_012490.1:g.8158C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.1320C>T MANE Select ENSP00000245479.2:p.Tyr440=
ENST00000245479.2:c.1320C>T ENSP00000245479.2:p.Tyr440=
NM_000346.3:c.1320C>T NP_000337.1:p.Tyr440=
NM_000346.4:c.1320C>T MANE Select NP_000337.1:p.Tyr440=
Search 100 bp 5'
Search 100 bp 3'