Canonical Allele Identifier: CA6658480
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 749237
ClinVar RCV Id: RCV000926093 RCV001111797
dbSNP Id: rs376212738
ExAC: 12:58159780 G / A
gnomAD v2: 12-58159780-G-A
gnomAD v3: 12-57765997-G-A
gnomAD v4: 12-57765997-G-A
MyVariant Identifiers: chr12:g.58159780G>A (hg19) chr12:g.57765997G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765997G>A , CM000674.2:g.57765997G>A GRCh38
NC_000012.11:g.58159780G>A , CM000674.1:g.58159780G>A GRCh37
NC_000012.10:g.56446047G>A NCBI36
NG_007076.1:g.6197C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.298+10C>T
ENST00000713544.1:c.386+10C>T ENSP00000518840.1:n.386+10C>T
ENST00000713545.1:c.386+10C>T ENSP00000518841.1:n.386+10C>T
ENST00000228606.9:c.386+10C>T MANE Select ENSP00000228606.4:n.386+10C>T
ENST00000228606.8:c.386+10C>T ENSP00000228606.4:n.386+10C>T
ENST00000546496.1:n.214+10C>T
ENST00000546609.1:c.298+10C>T
ENST00000547344.5:n.440+10C>T
ENST00000552186.1:n.505+10C>T
NM_000785.3:c.386+10C>T NP_000776.1:n.386+10C>T
NM_000785.4:c.386+10C>T MANE Select NP_000776.1:n.386+10C>T
Search 100 bp 5'
Search 100 bp 3'