Canonical Allele Identifier: CA6658239
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955125
ClinVar RCV Id: RCV001227711
dbSNP Id: rs556530774
ExAC: 12:58158257 A / T
gnomAD v2: 12-58158257-A-T
gnomAD v3: 12-57764474-A-T
gnomAD v4: 12-57764474-A-T
MyVariant Identifiers: chr12:g.58158257A>T (hg19) chr12:g.57764474A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57764474A>T , CM000674.2:g.57764474A>T GRCh38
NC_000012.11:g.58158257A>T , CM000674.1:g.58158257A>T GRCh37
NC_000012.10:g.56444524A>T NCBI36
NG_007076.1:g.7720T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1121T>A ENSP00000518840.1:p.Ile374Asn
ENST00000713545.1:c.*45T>A ENSP00000518841.1:n.*45T>A
ENST00000228606.9:c.1040T>A MANE Select ENSP00000228606.4:p.Ile347Asn
ENST00000228606.8:c.1040T>A ENSP00000228606.4:p.Ile347Asn
ENST00000546567.5:c.335T>A ENSP00000449472.1:p.Ile112Asn
ENST00000547344.5:n.1179T>A
NM_000785.3:c.1040T>A NP_000776.1:p.Ile347Asn
NM_000785.4:c.1040T>A MANE Select NP_000776.1:p.Ile347Asn
Search 100 bp 5'
Search 100 bp 3'