Canonical Allele Identifier: CA689466368

Gene: VDR

Linked Data

• dbSNP Id: rs1173141446
• gnomAD v3: 12-47908788-A-G
• gnomAD v4: 12-47908788-A-G
• MyVariant Identifiers: chr12:g.48302571A>G (hg19) ; chr12:g.47908788A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47908788A>G , CM000674.2:g.47908788A>G	GRCh38
NC_000012.11:g.48302571A>G , CM000674.1:g.48302571A>G	GRCh37
NC_000012.10:g.46588838A>G	NCBI36
NG_008731.1:g.1244T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395324.6:c.-83-26014T>C	ENSP00000378734.2:n.-83-26014T>C