Canonical Allele Identifier: CA6658147

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 802871
• ClinVar RCV Id: RCV000988872 ; RCV002479154
• dbSNP Id: rs767480544
• ExAC: 12:58157450 G / A
• gnomAD v2: 12-58157450-G-A
• gnomAD v3: 12-57763667-G-A
• gnomAD v4: 12-57763667-G-A
• MyVariant Identifiers: chr12:g.58157450G>A (hg19) ; chr12:g.57763667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57763667G>A , CM000674.2:g.57763667G>A	GRCh38
NC_000012.11:g.58157450G>A , CM000674.1:g.58157450G>A	GRCh37
NC_000012.10:g.56443717G>A	NCBI36
NG_007076.1:g.8527C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1438C>T	ENSP00000518840.1:p.Arg480Cys
ENST00000713545.1:c.*362C>T	ENSP00000518841.1:n.*362C>T
ENST00000228606.9:c.1357C>T MANE Select	ENSP00000228606.4:p.Arg453Cys
ENST00000228606.8:c.1357C>T	ENSP00000228606.4:p.Arg453Cys
ENST00000547344.5:n.1496C>T
NM_000785.3:c.1357C>T	NP_000776.1:p.Arg453Cys
NM_000785.4:c.1357C>T MANE Select	NP_000776.1:p.Arg453Cys