Canonical Allele Identifier: CA6658159
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2368189
ClinVar RCV Id: RCV002997182
dbSNP Id: rs768857789
ExAC: 12:58157512 C / T
gnomAD v2: 12-58157512-C-T
gnomAD v3: 12-57763729-C-T
gnomAD v4: 12-57763729-C-T
COSMIC: COSM1363434
MyVariant Identifiers: chr12:g.58157512C>T (hg19) chr12:g.57763729C>T (hg38)
PubMed: PMID:25363760
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763729C>T , CM000674.2:g.57763729C>T GRCh38
NC_000012.11:g.58157512C>T , CM000674.1:g.58157512C>T GRCh37
NC_000012.10:g.56443779C>T NCBI36
NG_007076.1:g.8465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1376G>A ENSP00000518840.1:p.Arg459His
ENST00000713545.1:c.*300G>A ENSP00000518841.1:n.*300G>A
ENST00000228606.9:c.1295G>A MANE Select ENSP00000228606.4:p.Arg432His
ENST00000228606.8:c.1295G>A ENSP00000228606.4:p.Arg432His
ENST00000547344.5:n.1434G>A
NM_000785.3:c.1295G>A NP_000776.1:p.Arg432His
NM_000785.4:c.1295G>A MANE Select NP_000776.1:p.Arg432His
Search 100 bp 5'
Search 100 bp 3'