Canonical Allele Identifier: CA947336555

Gene: VDR

Linked Data

• dbSNP Id: rs1945237749
• gnomAD v3: 12-47844628-G-A
• gnomAD v4: 12-47844628-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844628G>A , CM000674.2:g.47844628G>A	GRCh38
NC_000012.11:g.48238411G>A , CM000674.1:g.48238411G>A	GRCh37
NC_000012.10:g.46524678G>A	NCBI36
NG_008731.1:g.65404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1402C>T	ENSP00000229022.5:p.Leu468=
ENST00000549336.6:c.*118C>T MANE Select	ENSP00000449573.2:n.*118C>T
ENST00000229022.7:c.*118C>T	ENSP00000229022.3:n.*118C>T
ENST00000395324.6:c.*118C>T	ENSP00000378734.2:n.*118C>T
ENST00000547065.1:c.*1404C>T	ENSP00000449074.1:n.*1404C>T
ENST00000549336.5:c.*118C>T	ENSP00000449573.1:n.*118C>T
ENST00000550325.5:c.*118C>T	ENSP00000447173.1:n.*118C>T
NM_000376.2:c.*118C>T	NP_000367.1:n.*118C>T
NM_001017535.1:c.*118C>T	NP_001017535.1:n.*118C>T
NM_001017536.1:c.*118C>T	NP_001017536.1:n.*118C>T
XM_006719587.2:c.*118C>T	XP_006719650.1:n.*118C>T
XM_011538720.1:c.*118C>T	XP_011537022.1:n.*118C>T
NM_001364085.1:c.1402C>T	NP_001351014.1:p.Leu468=
NM_000376.3:c.*118C>T MANE Select	NP_000367.1:n.*118C>T
NM_001017535.2:c.*118C>T	NP_001017535.1:n.*118C>T
NM_001017536.2:c.*118C>T	NP_001017536.1:n.*118C>T
NM_001364085.2:c.1402C>T	NP_001351014.1:p.Leu468=
NM_001374661.1:c.*118C>T	NP_001361590.1:n.*118C>T
NM_001374662.1:c.*118C>T	NP_001361591.1:n.*118C>T