Canonical Allele Identifier: CA290856802

Gene: SOST

Linked Data

• dbSNP Id: rs911646680
• gnomAD v2: 17-41832701-G-A
• gnomAD v3: 17-43755333-G-A
• gnomAD v4: 17-43755333-G-A
• MyVariant Identifiers: chr17:g.41832701G>A (hg19) ; chr17:g.43755333G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755333G>A , CM000679.2:g.43755333G>A	GRCh38
NC_000017.10:g.41832701G>A , CM000679.1:g.41832701G>A	GRCh37
NC_000017.9:g.39188227G>A	NCBI36
NG_008078.2:g.8456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.*9C>T MANE Select	ENSP00000301691.1:n.*9C>T
ENST00000301691.2:c.*9C>T	ENSP00000301691.1:n.*9C>T
NM_025237.2:c.*9C>T	NP_079513.1:n.*9C>T
NM_025237.3:c.*9C>T MANE Select	NP_079513.1:n.*9C>T