Canonical Allele Identifier: CA340214

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 4258
• ClinVar RCV Id: RCV000004480 ; RCV001650828 ; RCV003415650
• dbSNP Id: rs121908097
• ExAC: 2:219679425 G / A
• gnomAD v2: 2-219679425-G-A
• gnomAD v3: 2-218814702-G-A
• gnomAD v4: 2-218814702-G-A
• COSMIC: COSM239505
• MyVariant Identifiers: chr2:g.219679425G>A (hg19) ; chr2:g.218814702G>A (hg38)
• PubMed: PMID:2072121 ; PMID:7915755 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814702G>A , CM000664.2:g.218814702G>A	GRCh38
NC_000002.11:g.219679425G>A , CM000664.1:g.219679425G>A	GRCh37
NC_000002.10:g.219387669G>A	NCBI36
NG_007959.1:g.37954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1421G>A MANE Select	ENSP00000258415.4:p.Arg474Gln
ENST00000258415.8:c.1421G>A	ENSP00000258415.4:p.Arg474Gln
ENST00000494263.5:n.2133G>A
NM_000784.3:c.1421G>A	NP_000775.1:p.Arg474Gln
XM_017003488.2:c.1001G>A	XP_016858977.1:p.Arg334Gln
NM_000784.4:c.1421G>A MANE Select	NP_000775.1:p.Arg474Gln