Canonical Allele Identifier: CA480401597
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999859
ClinVar RCV Id: RCV001295909
dbSNP Id: rs1955341474
gnomAD v3: 12-57764401-C-T
gnomAD v4: 12-57764401-C-T
COSMIC: COSM6462804
MyVariant Identifiers: chr12:g.58158184C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764401C>T , CM000674.2:g.57764401C>T GRCh38
NC_000012.11:g.58158184C>T , CM000674.1:g.58158184C>T GRCh37
NC_000012.10:g.56444451C>T NCBI36
NG_007076.1:g.7793G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1194G>A ENSP00000518840.1:p.Lys398=
ENST00000713545.1:c.*118G>A ENSP00000518841.1:n.*118G>A
ENST00000228606.9:c.1113G>A MANE Select ENSP00000228606.4:p.Lys371=
ENST00000228606.8:c.1113G>A ENSP00000228606.4:p.Lys371=
ENST00000546567.5:c.408G>A ENSP00000449472.1:p.Lys136=
ENST00000547344.5:n.1252G>A
NM_000785.3:c.1113G>A NP_000776.1:p.Lys371=
NM_000785.4:c.1113G>A MANE Select NP_000776.1:p.Lys371=
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