Canonical Allele Identifier: CA340223
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4267
ClinVar RCV Id: RCV000004488 RCV000597433
dbSNP Id: rs72551322
ExAC: 2:219679439 C / G
gnomAD v2: 2-219679439-C-G
gnomAD v3: 2-218814716-C-G
gnomAD v4: 2-218814716-C-G
MyVariant Identifiers: chr2:g.219679439C>G (hg19) chr2:g.218814716C>G (hg38)
PubMed: PMID:16278884 PMID:20301583
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814716C>G , CM000664.2:g.218814716C>G GRCh38
NC_000002.11:g.219679439C>G , CM000664.1:g.219679439C>G GRCh37
NC_000002.10:g.219387683C>G NCBI36
NG_007959.1:g.37968C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258415.9:c.1435C>G MANE Select ENSP00000258415.4:p.Arg479Gly
ENST00000258415.8:c.1435C>G ENSP00000258415.4:p.Arg479Gly
ENST00000494263.5:n.2147C>G
NM_000784.3:c.1435C>G NP_000775.1:p.Arg479Gly
XM_017003488.2:c.1015C>G XP_016858977.1:p.Arg339Gly
NM_000784.4:c.1435C>G MANE Select NP_000775.1:p.Arg479Gly
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Search 100 bp 3'