Allele Registry

Canonical Allele Identifier: CA15757663

Gene: VDR HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN19634884 (not active)

COSN19696875 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.47865343C>T

GRCh37 chr12:g.48259126C>T

Linked Data - Sequence & Population

gnomAD v2:

12:48259126 C / T

gnomAD v3:

12:47865343 C / T

gnomAD v4:

chr12-47865343-C-T

Joint Max Group AF 0.67958904 (EAS)

Genomes Max Group AF 0.67958904 (EAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001670785

ClinVar Variation:

1258255

dbSNP:

12717991

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47865343C>T , CM000674.2:g.47865343C>T	GRCh38
NC_000012.11:g.48259126C>T , CM000674.1:g.48259126C>T	GRCh37
NC_000012.10:g.46545393C>T	NCBI36
NG_008731.1:g.44689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.147-166G>A	ENSP00000229022.5:n.147-166G>A
ENST00000549336.6:c.147-166G>A MANE Select	ENSP00000449573.2:n.147-166G>A
ENST00000229022.7:c.147-166G>A	ENSP00000229022.3:n.147-166G>A
ENST00000395324.6:c.147-166G>A	ENSP00000378734.2:n.147-166G>A
ENST00000546653.5:c.147-166G>A	ENSP00000448659.1:n.147-166G>A
ENST00000547065.1:c.*149-166G>A	ENSP00000449074.1:n.*149-166G>A
ENST00000548664.1:c.147-166G>A	ENSP00000450105.1:n.147-166G>A
ENST00000549336.5:c.147-166G>A	ENSP00000449573.1:n.147-166G>A
ENST00000550314.5:c.147-166G>A	ENSP00000449561.1:n.147-166G>A
ENST00000550325.5:c.297-166G>A	ENSP00000447173.1:n.297-166G>A
NM_000376.2:c.147-166G>A	NP_000367.1:n.147-166G>A
NM_001017535.1:c.147-166G>A	NP_001017535.1:n.147-166G>A
NM_001017536.1:c.297-166G>A	NP_001017536.1:n.297-166G>A
XM_006719587.2:c.147-166G>A	XP_006719650.1:n.147-166G>A
XM_011538720.1:c.147-166G>A	XP_011537022.1:n.147-166G>A
NM_001364085.1:c.147-166G>A	NP_001351014.1:n.147-166G>A
XM_006719587.3:c.147-166G>A	XP_006719650.1:n.147-166G>A
XM_011538720.2:c.147-166G>A	XP_011537022.1:n.147-166G>A
XM_024449178.1:c.216-166G>A	XP_024304946.1:n.216-166G>A
NM_000376.3:c.147-166G>A MANE Select	NP_000367.1:n.147-166G>A
NM_001017535.2:c.147-166G>A	NP_001017535.1:n.147-166G>A
NM_001017536.2:c.297-166G>A	NP_001017536.1:n.297-166G>A
NM_001364085.2:c.147-166G>A	NP_001351014.1:n.147-166G>A
NM_001374661.1:c.147-166G>A	NP_001361590.1:n.147-166G>A
NM_001374662.1:c.147-166G>A	NP_001361591.1:n.147-166G>A

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