Canonical Allele Identifier: CA253293

Gene: SOST

Linked Data

• ClinVar Variation Id: 4786
• ClinVar RCV Id: RCV000005052
• dbSNP Id: rs104894645
• gnomAD v4: 17-43755608-G-A
• MyVariant Identifiers: chr17:g.41832976G>A (hg19) ; chr17:g.43755608G>A (hg38)
• PubMed: PMID:11181578

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755608G>A , CM000679.2:g.43755608G>A	GRCh38
NC_000017.10:g.41832976G>A , CM000679.1:g.41832976G>A	GRCh37
NC_000017.9:g.39188502G>A	NCBI36
NG_008078.2:g.8181C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301691.3:c.376C>T MANE Select	ENSP00000301691.1:p.Arg126Ter
ENST00000301691.2:c.376C>T	ENSP00000301691.1:p.Arg126Ter
NM_025237.2:c.376C>T	NP_079513.1:p.Arg126Ter
NM_025237.3:c.376C>T MANE Select	NP_079513.1:p.Arg126Ter