Canonical Allele Identifier: CA480403142

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2970385
• ClinVar RCV Id: RCV003830039
• dbSNP Id: rs1312398461
• gnomAD v4: 12-57765147-C-T
• MyVariant Identifiers: chr12:g.58158930C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57765147C>T , CM000674.2:g.57765147C>T	GRCh38
NC_000012.11:g.58158930C>T , CM000674.1:g.58158930C>T	GRCh37
NC_000012.10:g.56445197C>T	NCBI36
NG_007076.1:g.7047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.566G>A
ENST00000713544.1:c.735G>A	ENSP00000518840.1:p.Thr245=
ENST00000713545.1:c.712G>A	ENSP00000518841.1:p.Gly238Arg
ENST00000228606.9:c.654G>A MANE Select	ENSP00000228606.4:p.Thr218=
ENST00000228606.8:c.654G>A	ENSP00000228606.4:p.Thr218=
ENST00000546567.5:c.-52G>A	ENSP00000449472.1:n.-52G>A
ENST00000546609.1:c.566G>A
ENST00000547344.5:n.793G>A
ENST00000547451.1:n.454G>A
NM_000785.3:c.654G>A	NP_000776.1:p.Thr218=
NM_000785.4:c.654G>A MANE Select	NP_000776.1:p.Thr218=