Canonical Allele Identifier: CA689466352

Gene: VDR

Linked Data

• dbSNP Id: rs1311229732
• gnomAD v3: 12-47908765-T-G
• gnomAD v4: 12-47908765-T-G
• MyVariant Identifiers: chr12:g.48302548T>G (hg19) ; chr12:g.47908765T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47908765T>G , CM000674.2:g.47908765T>G	GRCh38
NC_000012.11:g.48302548T>G , CM000674.1:g.48302548T>G	GRCh37
NC_000012.10:g.46588815T>G	NCBI36
NG_008731.1:g.1267A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395324.6:c.-83-25991A>C	ENSP00000378734.2:n.-83-25991A>C