Canonical Allele Identifier: CA236507352
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs111374571
gnomAD v2: 12-48304570-A-C
gnomAD v3: 12-47910787-A-C
gnomAD v4: 12-47910787-A-C
MyVariant Identifiers: chr12:g.48304570A>C (hg19) chr12:g.47910787A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47910787A>C , CM000674.2:g.47910787A>C GRCh38
NC_000012.11:g.48304570A>C , CM000674.1:g.48304570A>C GRCh37
NC_000012.10:g.46590837A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395324.6:c.-83-28013T>G ENSP00000378734.2:n.-83-28013T>G
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