Canonical Allele Identifier: CA10632833

Gene: VDR

Linked Data

• ClinVar Variation Id: 308824
• ClinVar RCV Id: RCV000278113
• dbSNP Id: rs886049417
• gnomAD v3: 12-47842483-C-T
• gnomAD v4: 12-47842483-C-T
• MyVariant Identifiers: chr12:g.48236266C>T (hg19) ; chr12:g.47842483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47842483C>T , CM000674.2:g.47842483C>T	GRCh38
NC_000012.11:g.48236266C>T , CM000674.1:g.48236266C>T	GRCh37
NC_000012.10:g.46522533C>T	NCBI36
NG_008731.1:g.67549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549336.6:c.*2263G>A MANE Select	ENSP00000449573.2:n.*2263G>A
ENST00000229022.7:c.*2263G>A	ENSP00000229022.3:n.*2263G>A
ENST00000395324.6:c.*2263G>A	ENSP00000378734.2:n.*2263G>A
ENST00000549336.5:c.*2263G>A	ENSP00000449573.1:n.*2263G>A
NM_000376.2:c.*2263G>A	NP_000367.1:n.*2263G>A
NM_001017535.1:c.*2263G>A	NP_001017535.1:n.*2263G>A
NM_001017536.1:c.*2263G>A	NP_001017536.1:n.*2263G>A
NM_001364085.1:c.*2062G>A	NP_001351014.1:n.*2062G>A
NM_000376.3:c.*2263G>A MANE Select	NP_000367.1:n.*2263G>A
NM_001017535.2:c.*2263G>A	NP_001017535.1:n.*2263G>A
NM_001017536.2:c.*2263G>A	NP_001017536.1:n.*2263G>A
NM_001364085.2:c.*2062G>A	NP_001351014.1:n.*2062G>A
NM_001374661.1:c.*2263G>A	NP_001361590.1:n.*2263G>A
NM_001374662.1:c.*2263G>A	NP_001361591.1:n.*2263G>A