Canonical Allele Identifier: CA6658471
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1208785
ClinVar RCV Id: RCV001577225
dbSNP Id: rs35569378
ExAC: 12:58159442 C / T
gnomAD v2: 12-58159442-C-T
gnomAD v3: 12-57765659-C-T
gnomAD v4: 12-57765659-C-T
MyVariant Identifiers: chr12:g.58159442C>T (hg19) chr12:g.57765659C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765659C>T , CM000674.2:g.57765659C>T GRCh38
NC_000012.11:g.58159442C>T , CM000674.1:g.58159442C>T GRCh37
NC_000012.10:g.56445709C>T NCBI36
NG_007076.1:g.6535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.299-160G>A
ENST00000713544.1:c.387-79G>A ENSP00000518840.1:n.387-79G>A
ENST00000713545.1:c.387-102G>A ENSP00000518841.1:n.387-102G>A
ENST00000228606.9:c.387-160G>A MANE Select ENSP00000228606.4:n.387-160G>A
ENST00000228606.8:c.387-160G>A ENSP00000228606.4:n.387-160G>A
ENST00000546496.1:n.215-160G>A
ENST00000546567.5:c.-479G>A ENSP00000449472.1:n.-479G>A
ENST00000546609.1:c.299-160G>A
ENST00000547344.5:n.441-160G>A
ENST00000547451.1:n.27G>A
ENST00000552186.1:n.506-160G>A
NM_000785.3:c.387-160G>A NP_000776.1:n.387-160G>A
NM_000785.4:c.387-160G>A MANE Select NP_000776.1:n.387-160G>A
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