Canonical Allele Identifier: CA605706790
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2876993
ClinVar RCV Id: RCV003712632
dbSNP Id: rs1484122225
gnomAD v2: 12-58158141-C-T
gnomAD v3: 12-57764358-C-T
gnomAD v4: 12-57764358-C-T
MyVariant Identifiers: chr12:g.58158141C>T (hg19) chr12:g.57764358C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764358C>T , CM000674.2:g.57764358C>T GRCh38
NC_000012.11:g.58158141C>T , CM000674.1:g.58158141C>T GRCh37
NC_000012.10:g.56444408C>T NCBI36
NG_007076.1:g.7836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1217+20G>A ENSP00000518840.1:n.1217+20G>A
ENST00000713545.1:c.*141+20G>A ENSP00000518841.1:n.*141+20G>A
ENST00000228606.9:c.1136+20G>A MANE Select ENSP00000228606.4:n.1136+20G>A
ENST00000228606.8:c.1136+20G>A ENSP00000228606.4:n.1136+20G>A
ENST00000546567.5:c.431+20G>A ENSP00000449472.1:n.431+20G>A
ENST00000547344.5:n.1275+20G>A
NM_000785.3:c.1136+20G>A NP_000776.1:n.1136+20G>A
NM_000785.4:c.1136+20G>A MANE Select NP_000776.1:n.1136+20G>A
Search 100 bp 5'
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