Allele Registry

Canonical Allele Identifier: CA13588289

Gene: VDR HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.47906551C>G

GRCh37 chr12:g.48300334C>G

Linked Data - Sequence & Population

gnomAD v2:

12:48300334 C / G

gnomAD v3:

12:47906551 C / G

gnomAD v4:

chr12-47906551-C-G

Joint Max Group AF 0.43100617 (NFE)

Genomes Max Group AF 0.43103697 (NFE)

Exomes Max Group AF 0.0975933 (NFE)

Linked Data - NCBI & NCI

dbSNP:

7139166

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47906551C>G , CM000674.2:g.47906551C>G	GRCh38
NC_000012.11:g.48300334C>G , CM000674.1:g.48300334C>G	GRCh37
NC_000012.10:g.46586601C>G	NCBI36
NG_008731.1:g.3481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395324.6:c.-83-23777G>C	ENSP00000378734.2:n.-83-23777G>C

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