Canonical Allele Identifier: CA340216

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 4260
• ClinVar RCV Id: RCV000004482 ; RCV000726759 ; RCV001252459
• dbSNP Id: rs121908099
• ExAC: 2:219679132 G / A
• gnomAD v2: 2-219679132-G-A
• gnomAD v3: 2-218814409-G-A
• gnomAD v4: 2-218814409-G-A
• MyVariant Identifiers: chr2:g.219679132G>A (hg19) ; chr2:g.218814409G>A (hg38)
• PubMed: PMID:9186905 ; PMID:20301583 ; PMID:21958693 ; PMID:25941960 ; PMID:26861945

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814409G>A , CM000664.2:g.218814409G>A	GRCh38
NC_000002.11:g.219679132G>A , CM000664.1:g.219679132G>A	GRCh37
NC_000002.10:g.219387376G>A	NCBI36
NG_007959.1:g.37661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1214G>A MANE Select	ENSP00000258415.4:p.Arg405Gln
ENST00000258415.8:c.1214G>A	ENSP00000258415.4:p.Arg405Gln
ENST00000494263.5:n.1840G>A
NM_000784.3:c.1214G>A	NP_000775.1:p.Arg405Gln
XM_017003488.2:c.794G>A	XP_016858977.1:p.Arg265Gln
NM_000784.4:c.1214G>A MANE Select	NP_000775.1:p.Arg405Gln