Canonical Allele Identifier: CA480269326
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936788
ClinVar RCV Id: RCV002627489
dbSNP Id: rs1413944934
gnomAD v2: 12-58157588-G-A
gnomAD v3: 12-57763805-G-A
gnomAD v4: 12-57763805-G-A
MyVariant Identifiers: chr12:g.58157588G>A (hg19) chr12:g.57763805G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763805G>A , CM000674.2:g.57763805G>A GRCh38
NC_000012.11:g.58157588G>A , CM000674.1:g.58157588G>A GRCh37
NC_000012.10:g.56443855G>A NCBI36
NG_007076.1:g.8389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1300C>T ENSP00000518840.1:p.Leu434=
ENST00000713545.1:c.*224C>T ENSP00000518841.1:n.*224C>T
ENST00000228606.9:c.1219C>T MANE Select ENSP00000228606.4:p.Leu407=
ENST00000228606.8:c.1219C>T ENSP00000228606.4:p.Leu407=
ENST00000547344.5:n.1358C>T
NM_000785.3:c.1219C>T NP_000776.1:p.Leu407=
NM_000785.4:c.1219C>T MANE Select NP_000776.1:p.Leu407=
Search 100 bp 5'
Search 100 bp 3'