Canonical Allele Identifier: CA10641306
Gene: VDR HGNC NCBI

Linked Data

ClinVar Variation Id: 308862
ClinVar RCV Id: RCV000325971
dbSNP Id: rs3847987
gnomAD v2: 12-48238068-C-A
gnomAD v3: 12-47844285-C-A
gnomAD v4: 12-47844285-C-A
MyVariant Identifiers: chr12:g.48238068C>A (hg19) chr12:g.47844285C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47844285C>A , CM000674.2:g.47844285C>A GRCh38
NC_000012.11:g.48238068C>A , CM000674.1:g.48238068C>A GRCh37
NC_000012.10:g.46524335C>A NCBI36
NG_008731.1:g.65747G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000229022.9:c.*260G>T ENSP00000229022.5:n.*260G>T
ENST00000549336.6:c.*461G>T MANE Select ENSP00000449573.2:n.*461G>T
ENST00000229022.7:c.*461G>T ENSP00000229022.3:n.*461G>T
ENST00000395324.6:c.*461G>T ENSP00000378734.2:n.*461G>T
ENST00000549336.5:c.*461G>T ENSP00000449573.1:n.*461G>T
ENST00000550325.5:c.*461G>T ENSP00000447173.1:n.*461G>T
NM_000376.2:c.*461G>T NP_000367.1:n.*461G>T
NM_001017535.1:c.*461G>T NP_001017535.1:n.*461G>T
NM_001017536.1:c.*461G>T NP_001017536.1:n.*461G>T
XM_006719587.2:c.*461G>T XP_006719650.1:n.*461G>T
XM_011538720.1:c.*461G>T XP_011537022.1:n.*461G>T
NM_001364085.1:c.*260G>T NP_001351014.1:n.*260G>T
NM_000376.3:c.*461G>T MANE Select NP_000367.1:n.*461G>T
NM_001017535.2:c.*461G>T NP_001017535.1:n.*461G>T
NM_001017536.2:c.*461G>T NP_001017536.1:n.*461G>T
NM_001364085.2:c.*260G>T NP_001351014.1:n.*260G>T
NM_001374661.1:c.*461G>T NP_001361590.1:n.*461G>T
NM_001374662.1:c.*461G>T NP_001361591.1:n.*461G>T
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