Canonical Allele Identifier: CA479696442

Gene: VDR

Linked Data

• ClinVar Variation Id: 1080684
• ClinVar RCV Id: RCV001396404 ; RCV003908566
• dbSNP Id: rs550308645
• gnomAD v4: 12-47844773-G-C
• MyVariant Identifiers: chr12:g.48238556G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47844773G>C , CM000674.2:g.47844773G>C	GRCh38
NC_000012.11:g.48238556G>C , CM000674.1:g.48238556G>C	GRCh37
NC_000012.10:g.46524823G>C	NCBI36
NG_008731.1:g.65259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229022.9:c.1257C>G	ENSP00000229022.5:p.Leu419=
ENST00000549336.6:c.1257C>G MANE Select	ENSP00000449573.2:p.Leu419=
ENST00000229022.7:c.1257C>G	ENSP00000229022.3:p.Leu419=
ENST00000395324.6:c.1257C>G	ENSP00000378734.2:p.Leu419=
ENST00000547065.1:c.*1259C>G	ENSP00000449074.1:n.*1259C>G
ENST00000549336.5:c.1257C>G	ENSP00000449573.1:p.Leu419=
ENST00000550325.5:c.1407C>G	ENSP00000447173.1:p.Leu469=
NM_000376.2:c.1257C>G	NP_000367.1:p.Leu419=
NM_001017535.1:c.1257C>G	NP_001017535.1:p.Leu419=
NM_001017536.1:c.1407C>G	NP_001017536.1:p.Leu469=
XM_006719587.2:c.1257C>G	XP_006719650.1:p.Leu419=
XM_011538720.1:c.1257C>G	XP_011537022.1:p.Leu419=
NM_001364085.1:c.1257C>G	NP_001351014.1:p.Leu419=
XM_006719587.3:c.1257C>G	XP_006719650.1:p.Leu419=
XM_011538720.2:c.1257C>G	XP_011537022.1:p.Leu419=
XM_024449178.1:c.1326C>G	XP_024304946.1:p.Leu442=
NM_000376.3:c.1257C>G MANE Select	NP_000367.1:p.Leu419=
NM_001017535.2:c.1257C>G	NP_001017535.1:p.Leu419=
NM_001017536.2:c.1407C>G	NP_001017536.1:p.Leu469=
NM_001364085.2:c.1257C>G	NP_001351014.1:p.Leu419=
NM_001374661.1:c.1257C>G	NP_001361590.1:p.Leu419=
NM_001374662.1:c.1257C>G	NP_001361591.1:p.Leu419=