Canonical Allele Identifier: CA16445448
Gene: CYP27B1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57768302G>T
GRCh37 chr12:g.58162085G>T
gnomAD v2:
12:58162085 G / T
gnomAD v3:
12:57768302 G / T
gnomAD v4:
chr12-57768302-G-T
Joint Max Group AF 0.63166765 (EAS)
Genomes Max Group AF 0.63166765 (EAS)
ClinVar RCV:
RCV003318421
ClinVar Variation:
2413182
dbSNP:
10877012
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57768302G>T , CM000674.2:g.57768302G>T GRCh38
NC_000012.11:g.58162085G>T , CM000674.1:g.58162085G>T GRCh37
NC_000012.10:g.56448352G>T NCBI36
NG_007076.1:g.3892C>A
NG_047060.1:g.8830C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.107+578C>A
ENST00000546609.1:c.107+578C>A
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