Canonical Allele Identifier: CA431414247
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1102471
ClinVar RCV Id: RCV001425810
dbSNP Id: rs1180200717
gnomAD v2: 2-219677312-C-T
gnomAD v4: 2-218812589-C-T
MyVariant Identifiers: chr2:g.219677312C>T (hg19) chr2:g.218812589C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812589C>T , CM000664.2:g.218812589C>T GRCh38
NC_000002.11:g.219677312C>T , CM000664.1:g.219677312C>T GRCh37
NC_000002.10:g.219385556C>T NCBI36
NG_007959.1:g.35841C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.684C>T MANE Select ENSP00000258415.4:p.Cys228=
ENST00000258415.8:c.684C>T ENSP00000258415.4:p.Cys228=
ENST00000411688.1:c.402C>T ENSP00000392671.1:p.Cys134=
ENST00000445971.1:c.*145C>T ENSP00000404945.1:n.*145C>T
ENST00000466602.1:n.632C>T
ENST00000494263.5:n.1118C>T
NM_000784.3:c.684C>T NP_000775.1:p.Cys228=
XM_017003488.2:c.264C>T XP_016858977.1:p.Cys88=
NM_000784.4:c.684C>T MANE Select NP_000775.1:p.Cys228=
Search 100 bp 5'
Search 100 bp 3'