Canonical Allele Identifier: CA10632865

Gene: VDR

Linked Data

• ClinVar Variation Id: 308873
• ClinVar RCV Id: RCV000300530
• dbSNP Id: rs886049436
• gnomAD v3: 12-47844676-G-A
• gnomAD v4: 12-47844676-G-A
• MyVariant Identifiers: chr12:g.48238459G>A (hg19) ; chr12:g.47844676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844676G>A , CM000674.2:g.47844676G>A	GRCh38
NC_000012.11:g.48238459G>A , CM000674.1:g.48238459G>A	GRCh37
NC_000012.10:g.46524726G>A	NCBI36
NG_008731.1:g.65356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1354C>T	ENSP00000229022.5:p.Arg452Trp
ENST00000549336.6:c.*70C>T MANE Select	ENSP00000449573.2:n.*70C>T
ENST00000229022.7:c.*70C>T	ENSP00000229022.3:n.*70C>T
ENST00000395324.6:c.*70C>T	ENSP00000378734.2:n.*70C>T
ENST00000547065.1:c.*1356C>T	ENSP00000449074.1:n.*1356C>T
ENST00000549336.5:c.*70C>T	ENSP00000449573.1:n.*70C>T
ENST00000550325.5:c.*70C>T	ENSP00000447173.1:n.*70C>T
NM_000376.2:c.*70C>T	NP_000367.1:n.*70C>T
NM_001017535.1:c.*70C>T	NP_001017535.1:n.*70C>T
NM_001017536.1:c.*70C>T	NP_001017536.1:n.*70C>T
XM_006719587.2:c.*70C>T	XP_006719650.1:n.*70C>T
XM_011538720.1:c.*70C>T	XP_011537022.1:n.*70C>T
NM_001364085.1:c.1354C>T	NP_001351014.1:p.Arg452Trp
NM_000376.3:c.*70C>T MANE Select	NP_000367.1:n.*70C>T
NM_001017535.2:c.*70C>T	NP_001017535.1:n.*70C>T
NM_001017536.2:c.*70C>T	NP_001017536.1:n.*70C>T
NM_001364085.2:c.1354C>T	NP_001351014.1:p.Arg452Trp
NM_001374661.1:c.*70C>T	NP_001361590.1:n.*70C>T
NM_001374662.1:c.*70C>T	NP_001361591.1:n.*70C>T