Canonical Allele Identifier: CA10632870

Gene: VDR

Linked Data

• ClinVar Variation Id: 308889
• ClinVar RCV Id: RCV001731591
• dbSNP Id: rs11168292
• gnomAD v2: 12-48293605-C-G
• gnomAD v3: 12-47899822-C-G
• gnomAD v4: 12-47899822-C-G
• MyVariant Identifiers: chr12:g.48293605C>G (hg19) ; chr12:g.47899822C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47899822C>G , CM000674.2:g.47899822C>G	GRCh38
NC_000012.11:g.48293605C>G , CM000674.1:g.48293605C>G	GRCh37
NC_000012.10:g.46579872C>G	NCBI36
NG_008731.1:g.10210G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000549336.6:c.-84+5133G>C MANE Select	ENSP00000449573.2:n.-84+5133G>C
ENST00000229022.7:c.-84+15G>C	ENSP00000229022.3:n.-84+15G>C
ENST00000395324.6:c.-83-17048G>C	ENSP00000378734.2:n.-83-17048G>C
ENST00000546653.5:c.-3+15G>C	ENSP00000448659.1:n.-3+15G>C
ENST00000547065.1:c.-3+5133G>C	ENSP00000449074.1:n.-3+5133G>C
ENST00000548664.1:c.-84+15G>C	ENSP00000450105.1:n.-84+15G>C
ENST00000549336.5:c.-84+5133G>C	ENSP00000449573.1:n.-84+5133G>C
ENST00000550325.5:c.67+4742G>C	ENSP00000447173.1:n.67+4742G>C
NM_000376.2:c.-84+5133G>C	NP_000367.1:n.-84+5133G>C
NM_001017535.1:c.-84+15G>C	NP_001017535.1:n.-84+15G>C
NM_001017536.1:c.67+4742G>C	NP_001017536.1:n.67+4742G>C
XM_006719587.2:c.-3+5133G>C	XP_006719650.1:n.-3+5133G>C
XM_011538720.1:c.-3+15G>C	XP_011537022.1:n.-3+15G>C
NM_001364085.1:c.-84+5133G>C	NP_001351014.1:n.-84+5133G>C
XM_006719587.3:c.-3+5133G>C	XP_006719650.1:n.-3+5133G>C
XM_011538720.2:c.-3+15G>C	XP_011537022.1:n.-3+15G>C
XM_024449178.1:c.67+4742G>C	XP_024304946.1:n.67+4742G>C
NM_000376.3:c.-84+5133G>C MANE Select	NP_000367.1:n.-84+5133G>C
NM_001017535.2:c.-84+15G>C	NP_001017535.1:n.-84+15G>C
NM_001017536.2:c.67+4742G>C	NP_001017536.1:n.67+4742G>C
NM_001364085.2:c.-84+5133G>C	NP_001351014.1:n.-84+5133G>C
NM_001374661.1:c.-3+15G>C	NP_001361590.1:n.-3+15G>C
NM_001374662.1:c.-3+5133G>C	NP_001361591.1:n.-3+5133G>C