Canonical Allele Identifier: CA539840565
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804694
ClinVar RCV Id: RCV002469991
dbSNP Id: rs1449962580
gnomAD v2: 2-219678848-GC-G
gnomAD v3: 2-218814125-GC-G
gnomAD v4: 2-218814125-GC-G
MyVariant Identifiers: chr2:g.219678849del (hg19) chr2:g.218814126del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814129del , CM000664.2:g.218814129del GRCh38
NC_000002.11:g.219678852del , CM000664.1:g.219678852del GRCh37
NC_000002.10:g.219387096del NCBI36
NG_007959.1:g.37381del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1126del MANE Select ENSP00000258415.4:p.Gln376SerfsTer?
ENST00000258415.8:c.1126del ENSP00000258415.4:p.Gln376SerfsTer?
ENST00000494263.5:n.1560del
NM_000784.3:c.1126del NP_000775.1:p.Gln376SerfsTer?
XM_017003488.2:c.706del XP_016858977.1:p.Gln236SerfsTer?
NM_000784.4:c.1126del MANE Select NP_000775.1:p.Gln376SerfsTer?
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