Canonical Allele Identifier: CA236507288

Gene: VDR

Linked Data

• dbSNP Id: rs57440316
• gnomAD v2: 12-48304508-A-G
• gnomAD v3: 12-47910725-A-G
• gnomAD v4: 12-47910725-A-G
• MyVariant Identifiers: chr12:g.48304508A>G (hg19) ; chr12:g.47910725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47910725A>G , CM000674.2:g.47910725A>G	GRCh38
NC_000012.11:g.48304508A>G , CM000674.1:g.48304508A>G	GRCh37
NC_000012.10:g.46590775A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395324.6:c.-83-27951T>C	ENSP00000378734.2:n.-83-27951T>C