Canonical Allele Identifier: CA350591749
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498764
ClinVar RCV Id: RCV000592159 RCV001854027
dbSNP Id: rs1215745374
gnomAD v2: 2-219678809-G-T
gnomAD v3: 2-218814086-G-T
gnomAD v4: 2-218814086-G-T
MyVariant Identifiers: chr2:g.219678809G>T (hg19) chr2:g.218814086G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218814086G>T , CM000664.2:g.218814086G>T GRCh38
NC_000002.11:g.219678809G>T , CM000664.1:g.219678809G>T GRCh37
NC_000002.10:g.219387053G>T NCBI36
NG_007959.1:g.37338G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258415.9:c.1083G>T MANE Select ENSP00000258415.4:p.Leu361Phe
ENST00000258415.8:c.1083G>T ENSP00000258415.4:p.Leu361Phe
ENST00000466602.1:n.1205G>T
ENST00000494263.5:n.1517G>T
NM_000784.3:c.1083G>T NP_000775.1:p.Leu361Phe
XM_017003488.2:c.663G>T XP_016858977.1:p.Leu221Phe
NM_000784.4:c.1083G>T MANE Select NP_000775.1:p.Leu361Phe
Search 100 bp 5'
Search 100 bp 3'