Canonical Allele Identifier: CA6658147
Gene: CYP27B1 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'