Canonical Allele Identifier: CA6658247
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1982860
ClinVar RCV Id: RCV002795151
dbSNP Id: rs775708027
ExAC: 12:58158307 C / T
gnomAD v2: 12-58158307-C-T
gnomAD v3: 12-57764524-C-T
gnomAD v4: 12-57764524-C-T
MyVariant Identifiers: chr12:g.58158307C>T (hg19) chr12:g.57764524C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764524C>T , CM000674.2:g.57764524C>T GRCh38
NC_000012.11:g.58158307C>T , CM000674.1:g.58158307C>T GRCh37
NC_000012.10:g.56444574C>T NCBI36
NG_007076.1:g.7670G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000713544.1:c.1071G>A ENSP00000518840.1:p.Leu357=
ENST00000713545.1:c.1048G>A ENSP00000518841.1:p.Val350Ile
ENST00000228606.9:c.990G>A MANE Select ENSP00000228606.4:p.Leu330=
ENST00000228606.8:c.990G>A ENSP00000228606.4:p.Leu330=
ENST00000546567.5:c.285G>A ENSP00000449472.1:p.Leu95=
ENST00000547344.5:n.1129G>A
NM_000785.3:c.990G>A NP_000776.1:p.Leu330=
NM_000785.4:c.990G>A MANE Select NP_000776.1:p.Leu330=
Search 100 bp 5'
Search 100 bp 3'