Canonical Allele Identifier: CA340212

Gene: CYP27A1

Linked Data

• ClinVar Variation Id: 4256
• ClinVar RCV Id: RCV000004478 ; RCV000522490
• dbSNP Id: rs397515353
• ExAC: 2:219677646 G / A
• gnomAD v2: 2-219677646-G-A
• gnomAD v3: 2-218812923-G-A
• gnomAD v4: 2-218812923-G-A
• MyVariant Identifiers: chr2:g.219677646G>A (hg19) ; chr2:g.218812923G>A (hg38)
• PubMed: PMID:8514861 ; PMID:20301583

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218812923G>A , CM000664.2:g.218812923G>A	GRCh38
NC_000002.11:g.219677646G>A , CM000664.1:g.219677646G>A	GRCh37
NC_000002.10:g.219385890G>A	NCBI36
NG_007959.1:g.36175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258415.9:c.845-1G>A MANE Select	ENSP00000258415.4:n.845-1G>A
ENST00000258415.8:c.845-1G>A	ENSP00000258415.4:n.845-1G>A
ENST00000411688.1:c.563-1G>A	ENSP00000392671.1:n.563-1G>A
ENST00000445971.1:c.*306-1G>A	ENSP00000404945.1:n.*306-1G>A
ENST00000466602.1:n.966G>A
ENST00000494263.5:n.1279-1G>A
NM_000784.3:c.845-1G>A	NP_000775.1:n.845-1G>A
XM_017003488.2:c.425-1G>A	XP_016858977.1:n.425-1G>A
NM_000784.4:c.845-1G>A MANE Select	NP_000775.1:n.845-1G>A