Canonical Allele Identifier: CA689467462

Gene: VDR

Linked Data

• dbSNP Id: rs1427767765
• gnomAD v3: 12-47910776-T-C
• gnomAD v4: 12-47910776-T-C
• MyVariant Identifiers: chr12:g.48304559T>C (hg19) ; chr12:g.47910776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47910776T>C , CM000674.2:g.47910776T>C	GRCh38
NC_000012.11:g.48304559T>C , CM000674.1:g.48304559T>C	GRCh37
NC_000012.10:g.46590826T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395324.6:c.-83-28002A>G	ENSP00000378734.2:n.-83-28002A>G