Canonical Allele Identifier: CA6658493
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2900848
ClinVar RCV Id: RCV003728986
dbSNP Id: rs766452283
ExAC: 12:58159834 C / T
gnomAD v2: 12-58159834-C-T
gnomAD v3: 12-57766051-C-T
gnomAD v4: 12-57766051-C-T
MyVariant Identifiers: chr12:g.58159834C>T (hg19) chr12:g.57766051C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766051C>T , CM000674.2:g.57766051C>T GRCh38
NC_000012.11:g.58159834C>T , CM000674.1:g.58159834C>T GRCh37
NC_000012.10:g.56446101C>T NCBI36
NG_007076.1:g.6143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.254G>A
ENST00000713544.1:c.342G>A ENSP00000518840.1:p.Thr114=
ENST00000713545.1:c.342G>A ENSP00000518841.1:p.Thr114=
ENST00000228606.9:c.342G>A MANE Select ENSP00000228606.4:p.Thr114=
ENST00000228606.8:c.342G>A ENSP00000228606.4:p.Thr114=
ENST00000546496.1:n.170G>A
ENST00000546609.1:c.254G>A
ENST00000547344.5:n.396G>A
ENST00000552186.1:n.461G>A
NM_000785.3:c.342G>A NP_000776.1:p.Thr114=
NM_000785.4:c.342G>A MANE Select NP_000776.1:p.Thr114=
Search 100 bp 5'
Search 100 bp 3'