Canonical Allele Identifier: CA689466373
Gene: VDR HGNC NCBI

Linked Data

dbSNP Id: rs1191834449
gnomAD v3: 12-47908804-C-T
gnomAD v4: 12-47908804-C-T
MyVariant Identifiers: chr12:g.48302587C>T (hg19) chr12:g.47908804C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47908804C>T , CM000674.2:g.47908804C>T GRCh38
NC_000012.11:g.48302587C>T , CM000674.1:g.48302587C>T GRCh37
NC_000012.10:g.46588854C>T NCBI36
NG_008731.1:g.1228G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395324.6:c.-83-26030G>A ENSP00000378734.2:n.-83-26030G>A
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