Canonical Allele Identifier: CA400867674
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 987430
ClinVar RCV Id: RCV001268794
dbSNP Id: rs1255573826
gnomAD v4: 17-72123938-C-T
MyVariant Identifiers: chr17:g.70120079C>T (hg19) chr17:g.72123938C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123938C>T , CM000679.2:g.72123938C>T GRCh38
NC_000017.10:g.70120079C>T , CM000679.1:g.70120079C>T GRCh37
NC_000017.9:g.67631674C>T NCBI36
NG_012490.1:g.7919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1081C>T MANE Select ENSP00000245479.2:p.Gln361Ter
ENST00000245479.2:c.1081C>T ENSP00000245479.2:p.Gln361Ter
NM_000346.3:c.1081C>T NP_000337.1:p.Gln361Ter
NM_000346.4:c.1081C>T MANE Select NP_000337.1:p.Gln361Ter
Search 100 bp 5'
Search 100 bp 3'