Canonical Allele Identifier: CA340218

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 4262
• ClinVar RCV Id: RCV000004484 ; RCV000519339
• dbSNP Id: rs397515355
• ExAC: 2:219679182 G / A
• gnomAD v2: 2-219679182-G-A
• gnomAD v3: 2-218814459-G-A
• gnomAD v4: 2-218814459-G-A
• MyVariant Identifiers: chr2:g.219679182G>A (hg19) ; chr2:g.218814459G>A (hg38)
• PubMed: PMID:8827518 ; PMID:10519880 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814459G>A , CM000664.2:g.218814459G>A	GRCh38
NC_000002.11:g.219679182G>A , CM000664.1:g.219679182G>A	GRCh37
NC_000002.10:g.219387426G>A	NCBI36
NG_007959.1:g.37711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1263+1G>A MANE Select	ENSP00000258415.4:n.1263+1G>A
ENST00000258415.8:c.1263+1G>A	ENSP00000258415.4:n.1263+1G>A
ENST00000494263.5:n.1890G>A
NM_000784.3:c.1263+1G>A	NP_000775.1:n.1263+1G>A
XM_017003488.2:c.843+1G>A	XP_016858977.1:n.843+1G>A
NM_000784.4:c.1263+1G>A MANE Select	NP_000775.1:n.1263+1G>A