Canonical Allele Identifier: CA948106643

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955357958
• gnomAD v3: 12-57766065-AG-A
• gnomAD v4: 12-57766065-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766066del , CM000674.2:g.57766066del	GRCh38
NC_000012.11:g.58159849del , CM000674.1:g.58159849del	GRCh37
NC_000012.10:g.56446116del	NCBI36
NG_007076.1:g.6128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.239del
ENST00000713544.1:c.327del	ENSP00000518840.1:p.Phe110SerfsTer?
ENST00000713545.1:c.327del	ENSP00000518841.1:p.Phe110SerfsTer?
ENST00000228606.9:c.327del MANE Select	ENSP00000228606.4:p.Phe110SerfsTer?
ENST00000228606.8:c.327del	ENSP00000228606.4:p.Phe110SerfsTer?
ENST00000546496.1:n.155del
ENST00000546609.1:c.239del
ENST00000547344.5:n.381del
ENST00000552186.1:n.446del
NM_000785.3:c.327del	NP_000776.1:p.Phe110SerfsTer?
NM_000785.4:c.327del MANE Select	NP_000776.1:p.Phe110SerfsTer?