Canonical Allele Identifier: CA253289
Gene: SOST HGNC NCBI

Linked Data

ClinVar Variation Id: 4783
ClinVar RCV Id: RCV000005049
dbSNP Id: rs387906320
gnomAD v3: 17-43758672-G-A
gnomAD v4: 17-43758672-G-A
MyVariant Identifiers: chr17:g.41836040G>A (hg19) chr17:g.43758672G>A (hg38)
PubMed: PMID:11179006
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43758672G>A , CM000679.2:g.43758672G>A GRCh38
NC_000017.10:g.41836040G>A , CM000679.1:g.41836040G>A GRCh37
NC_000017.9:g.39191566G>A NCBI36
NG_008078.2:g.5117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.70C>T MANE Select ENSP00000301691.1:p.Gln24Ter
ENST00000301691.2:c.70C>T ENSP00000301691.1:p.Gln24Ter
NM_025237.2:c.70C>T NP_079513.1:p.Gln24Ter
NM_025237.3:c.70C>T MANE Select NP_079513.1:p.Gln24Ter
Search 100 bp 5'
Search 100 bp 3'