Canonical Allele Identifier: CA6658490

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2092360
• ClinVar RCV Id: RCV002991858
• dbSNP Id: rs765161769
• ExAC: 12:58159826 C / T
• gnomAD v2: 12-58159826-C-T
• gnomAD v3: 12-57766043-C-T
• gnomAD v4: 12-57766043-C-T
• MyVariant Identifiers: chr12:g.58159826C>T (hg19) ; chr12:g.57766043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766043C>T , CM000674.2:g.57766043C>T	GRCh38
NC_000012.11:g.58159826C>T , CM000674.1:g.58159826C>T	GRCh37
NC_000012.10:g.56446093C>T	NCBI36
NG_007076.1:g.6151G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000546609.2:n.262G>A
ENST00000713544.1:c.350G>A	ENSP00000518840.1:p.Arg117His
ENST00000713545.1:c.350G>A	ENSP00000518841.1:p.Arg117His
ENST00000228606.9:c.350G>A MANE Select	ENSP00000228606.4:p.Arg117His
ENST00000228606.8:c.350G>A	ENSP00000228606.4:p.Arg117His
ENST00000546496.1:n.178G>A
ENST00000546609.1:c.262G>A
ENST00000547344.5:n.404G>A
ENST00000552186.1:n.469G>A
NM_000785.3:c.350G>A	NP_000776.1:p.Arg117His
NM_000785.4:c.350G>A MANE Select	NP_000776.1:p.Arg117His