Canonical Allele Identifier: CA385504041
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352793
ClinVar RCV Id: RCV002039957
dbSNP Id: rs1472040668
gnomAD v2: 12-58158311-G-A
gnomAD v3: 12-57764528-G-A
gnomAD v4: 12-57764528-G-A
MyVariant Identifiers: chr12:g.58158311G>A (hg19) chr12:g.57764528G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764528G>A , CM000674.2:g.57764528G>A GRCh38
NC_000012.11:g.58158311G>A , CM000674.1:g.58158311G>A GRCh37
NC_000012.10:g.56444578G>A NCBI36
NG_007076.1:g.7666C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1067C>T ENSP00000518840.1:p.Ala356Val
ENST00000713545.1:c.1044C>T ENSP00000518841.1:p.Gly348=
ENST00000228606.9:c.986C>T MANE Select ENSP00000228606.4:p.Ala329Val
ENST00000228606.8:c.986C>T ENSP00000228606.4:p.Ala329Val
ENST00000546567.5:c.281C>T ENSP00000449472.1:p.Ala94Val
ENST00000547344.5:n.1125C>T
NM_000785.3:c.986C>T NP_000776.1:p.Ala329Val
NM_000785.4:c.986C>T MANE Select NP_000776.1:p.Ala329Val
Search 100 bp 5'
Search 100 bp 3'