Canonical Allele Identifier: CA604844575

Gene: VDR

Linked Data

• dbSNP Id: rs1265368261
• gnomAD v2: 12-48302518-C-T
• gnomAD v3: 12-47908735-C-T
• gnomAD v4: 12-47908735-C-T
• MyVariant Identifiers: chr12:g.48302518C>T (hg19) ; chr12:g.47908735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47908735C>T , CM000674.2:g.47908735C>T	GRCh38
NC_000012.11:g.48302518C>T , CM000674.1:g.48302518C>T	GRCh37
NC_000012.10:g.46588785C>T	NCBI36
NG_008731.1:g.1297G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395324.6:c.-83-25961G>A	ENSP00000378734.2:n.-83-25961G>A