Canonical Allele Identifier: CA13588288
Gene: VDR HGNC NCBI
dbSNP:
4516035
gnomAD v2:
12:48299826 T / C
gnomAD v3:
12:47906043 T / C
gnomAD v4:
chr12-47906043-T-C
Joint Max Group AF 0.43070408 (NFE)
Genomes Max Group AF 0.4307167 (NFE)
MyVariant.info:
GRCh38 chr12:g.47906043T>C
GRCh37 chr12:g.48299826T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47906043T>C , CM000674.2:g.47906043T>C GRCh38
NC_000012.11:g.48299826T>C , CM000674.1:g.48299826T>C GRCh37
NC_000012.10:g.46586093T>C NCBI36
NG_008731.1:g.3989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395324.6:c.-83-23269A>G ENSP00000378734.2:n.-83-23269A>G
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