Canonical Allele Identifier: CA431414615
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2984245
ClinVar RCV Id: RCV003843404
dbSNP Id: rs1322506959
gnomAD v2: 2-219677462-C-A
gnomAD v4: 2-218812739-C-A
MyVariant Identifiers: chr2:g.219677462C>A (hg19) chr2:g.218812739C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812739C>A , CM000664.2:g.218812739C>A GRCh38
NC_000002.11:g.219677462C>A , CM000664.1:g.219677462C>A GRCh37
NC_000002.10:g.219385706C>A NCBI36
NG_007959.1:g.35991C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.834C>A MANE Select ENSP00000258415.4:p.Ile278=
ENST00000258415.8:c.834C>A ENSP00000258415.4:p.Ile278=
ENST00000411688.1:c.552C>A ENSP00000392671.1:p.Ile184=
ENST00000445971.1:c.*295C>A ENSP00000404945.1:n.*295C>A
ENST00000466602.1:n.782C>A
ENST00000494263.5:n.1268C>A
NM_000784.3:c.834C>A NP_000775.1:p.Ile278=
XM_017003488.2:c.414C>A XP_016858977.1:p.Ile138=
NM_000784.4:c.834C>A MANE Select NP_000775.1:p.Ile278=
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Search 100 bp 3'