Canonical Allele Identifier: CA236505761

Gene: VDR

Linked Data

• ClinVar Variation Id: 880948
• ClinVar RCV Id: RCV001109594 ; RCV002285443
• dbSNP Id: rs11574117
• gnomAD v2: 12-48238307-C-G
• gnomAD v3: 12-47844524-C-G
• gnomAD v4: 12-47844524-C-G
• MyVariant Identifiers: chr12:g.48238307C>G (hg19) ; chr12:g.47844524C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844524C>G , CM000674.2:g.47844524C>G	GRCh38
NC_000012.11:g.48238307C>G , CM000674.1:g.48238307C>G	GRCh37
NC_000012.10:g.46524574C>G	NCBI36
NG_008731.1:g.65508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.*21G>C	ENSP00000229022.5:n.*21G>C
ENST00000549336.6:c.*222G>C MANE Select	ENSP00000449573.2:n.*222G>C
ENST00000229022.7:c.*222G>C	ENSP00000229022.3:n.*222G>C
ENST00000395324.6:c.*222G>C	ENSP00000378734.2:n.*222G>C
ENST00000547065.1:c.*1508G>C	ENSP00000449074.1:n.*1508G>C
ENST00000549336.5:c.*222G>C	ENSP00000449573.1:n.*222G>C
ENST00000550325.5:c.*222G>C	ENSP00000447173.1:n.*222G>C
NM_000376.2:c.*222G>C	NP_000367.1:n.*222G>C
NM_001017535.1:c.*222G>C	NP_001017535.1:n.*222G>C
NM_001017536.1:c.*222G>C	NP_001017536.1:n.*222G>C
XM_006719587.2:c.*222G>C	XP_006719650.1:n.*222G>C
XM_011538720.1:c.*222G>C	XP_011537022.1:n.*222G>C
NM_001364085.1:c.*21G>C	NP_001351014.1:n.*21G>C
NM_000376.3:c.*222G>C MANE Select	NP_000367.1:n.*222G>C
NM_001017535.2:c.*222G>C	NP_001017535.1:n.*222G>C
NM_001017536.2:c.*222G>C	NP_001017536.1:n.*222G>C
NM_001364085.2:c.*21G>C	NP_001351014.1:n.*21G>C
NM_001374661.1:c.*222G>C	NP_001361590.1:n.*222G>C
NM_001374662.1:c.*222G>C	NP_001361591.1:n.*222G>C