Canonical Allele Identifier: CA340217

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 4261
• ClinVar RCV Id: RCV000004483
• dbSNP Id: rs121908096
• ExAC: 2:219678909 C / A
• gnomAD v2: 2-219678909-C-A
• gnomAD v4: 2-218814186-C-A
• MyVariant Identifiers: chr2:g.219678909C>A (hg19) ; chr2:g.218814186C>A (hg38)
• PubMed: PMID:9790667 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218814186C>A , CM000664.2:g.218814186C>A	GRCh38
NC_000002.11:g.219678909C>A , CM000664.1:g.219678909C>A	GRCh37
NC_000002.10:g.219387153C>A	NCBI36
NG_007959.1:g.37438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.1183C>A MANE Select	ENSP00000258415.4:p.Arg395Ser
ENST00000258415.8:c.1183C>A	ENSP00000258415.4:p.Arg395Ser
ENST00000494263.5:n.1617C>A
NM_000784.3:c.1183C>A	NP_000775.1:p.Arg395Ser
XM_017003488.2:c.763C>A	XP_016858977.1:p.Arg255Ser
NM_000784.4:c.1183C>A MANE Select	NP_000775.1:p.Arg395Ser