Canonical Allele Identifier: CA605706800

Gene: CYP27B1

Linked Data

• ClinVar Variation Id: 2784471
• ClinVar RCV Id: RCV003662249
• dbSNP Id: rs1246399599
• gnomAD v2: 12-58157935-AT-A
• gnomAD v3: 12-57764152-AT-A
• gnomAD v4: 12-57764152-AT-A
• MyVariant Identifiers: chr12:g.58157936del (hg19) ; chr12:g.57764153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57764155del , CM000674.2:g.57764155del	GRCh38
NC_000012.11:g.58157938del , CM000674.1:g.58157938del	GRCh37
NC_000012.10:g.56444205del	NCBI36
NG_007076.1:g.8041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713544.1:c.1241del	ENSP00000518840.1:p.Asn414IlefsTer?
ENST00000713545.1:c.*165del	ENSP00000518841.1:n.*165del
ENST00000228606.9:c.1160del MANE Select	ENSP00000228606.4:p.Asn387IlefsTer?
ENST00000228606.8:c.1160del	ENSP00000228606.4:p.Asn387IlefsTer?
ENST00000546567.5:c.455del	ENSP00000449472.1:p.Asn152IlefsTer?
ENST00000547344.5:n.1299del
NM_000785.3:c.1160del	NP_000776.1:p.Asn387IlefsTer?
NM_000785.4:c.1160del MANE Select	NP_000776.1:p.Asn387IlefsTer?