Canonical Allele Identifier: CA8592818
Gene: SOST HGNC NCBI

Linked Data

ClinVar Variation Id: 2211834
ClinVar RCV Id: RCV002660309
dbSNP Id: rs778302663
ExAC: 17:41833057 G / C
gnomAD v2: 17-41833057-G-C
gnomAD v3: 17-43755689-G-C
gnomAD v4: 17-43755689-G-C
MyVariant Identifiers: chr17:g.41833057G>C (hg19) chr17:g.43755689G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755689G>C , CM000679.2:g.43755689G>C GRCh38
NC_000017.10:g.41833057G>C , CM000679.1:g.41833057G>C GRCh37
NC_000017.9:g.39188583G>C NCBI36
NG_008078.2:g.8100C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.295C>G MANE Select ENSP00000301691.1:p.Pro99Ala
ENST00000301691.2:c.295C>G ENSP00000301691.1:p.Pro99Ala
NM_025237.2:c.295C>G NP_079513.1:p.Pro99Ala
NM_025237.3:c.295C>G MANE Select NP_079513.1:p.Pro99Ala
Search 100 bp 5'
Search 100 bp 3'