Canonical Allele Identifier: CA399701322
Gene: SOST HGNC NCBI

Linked Data

ClinVar Variation Id: 2690058
ClinVar RCV Id: RCV003491534
dbSNP Id: rs1433615680
gnomAD v4: 17-43755406-C-G
MyVariant Identifiers: chr17:g.41832774C>G (hg19) chr17:g.43755406C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755406C>G , CM000679.2:g.43755406C>G GRCh38
NC_000017.10:g.41832774C>G , CM000679.1:g.41832774C>G GRCh37
NC_000017.9:g.39188300C>G NCBI36
NG_008078.2:g.8383G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.578G>C MANE Select ENSP00000301691.1:p.Arg193Pro
ENST00000301691.2:c.578G>C ENSP00000301691.1:p.Arg193Pro
NM_025237.2:c.578G>C NP_079513.1:p.Arg193Pro
NM_025237.3:c.578G>C MANE Select NP_079513.1:p.Arg193Pro
Search 100 bp 5'
Search 100 bp 3'