Canonical Allele Identifier: CA236506028
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs978261604
gnomAD v2: 12-48302494-C-G
gnomAD v3: 12-47908711-C-G
gnomAD v4: 12-47908711-C-G
MyVariant Identifiers: chr12:g.48302494C>G (hg19) chr12:g.47908711C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908711C>G , CM000674.2:g.47908711C>G GRCh38
NC_000012.11:g.48302494C>G , CM000674.1:g.48302494C>G GRCh37
NC_000012.10:g.46588761C>G NCBI36
NG_008731.1:g.1321G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-25937G>C ENSP00000378734.2:n.-83-25937G>C
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