Canonical Allele Identifier: CA2112698
Gene: CYP27A1 HGNC NCBI
ClinVar RCV:
RCV000400254
RCV000729208
RCV003972410
ClinVar Variation:
334368
dbSNP:
149897566
gnomAD v2:
2:219677331 G / A
gnomAD v3:
2:218812608 G / A
gnomAD v4:
chr2-218812608-G-A
Joint Max Group AF 0.00236266 (AFR)
Genomes Max Group AF 0.00213442 (AFR)
Exomes Max Group AF 0.00237533 (AFR)
MyVariant.info:
GRCh38 chr2:g.218812608G>A
GRCh37 chr2:g.219677331G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218812608G>A , CM000664.2:g.218812608G>A GRCh38
NC_000002.11:g.219677331G>A , CM000664.1:g.219677331G>A GRCh37
NC_000002.10:g.219385575G>A NCBI36
NG_007959.1:g.35860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.703G>A MANE Select ENSP00000258415.4:p.Glu235Lys
ENST00000258415.8:c.703G>A ENSP00000258415.4:p.Glu235Lys
ENST00000411688.1:c.421G>A ENSP00000392671.1:p.Glu141Lys
ENST00000445971.1:c.*164G>A ENSP00000404945.1:n.*164G>A
ENST00000466602.1:n.651G>A
ENST00000494263.5:n.1137G>A
NM_000784.3:c.703G>A NP_000775.1:p.Glu235Lys
XM_017003488.2:c.283G>A XP_016858977.1:p.Glu95Lys
NM_000784.4:c.703G>A MANE Select NP_000775.1:p.Glu235Lys
Search 100 bp 5'
Search 100 bp 3'