Canonical Allele Identifier: CA6658368
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960812
ClinVar RCV Id: RCV001234408
dbSNP Id: rs201503366
ExAC: 12:58158958 C / G
gnomAD v2: 12-58158958-C-G
gnomAD v3: 12-57765175-C-G
gnomAD v4: 12-57765175-C-G
MyVariant Identifiers: chr12:g.58158958C>G (hg19) chr12:g.57765175C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57765175C>G , CM000674.2:g.57765175C>G GRCh38
NC_000012.11:g.58158958C>G , CM000674.1:g.58158958C>G GRCh37
NC_000012.10:g.56445225C>G NCBI36
NG_007076.1:g.7019G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000546609.2:n.538G>C
ENST00000713544.1:c.707G>C ENSP00000518840.1:p.Cys236Ser
ENST00000713545.1:c.684G>C ENSP00000518841.1:p.Leu228=
ENST00000228606.9:c.626G>C MANE Select ENSP00000228606.4:p.Cys209Ser
ENST00000228606.8:c.626G>C ENSP00000228606.4:p.Cys209Ser
ENST00000546567.5:c.-80G>C ENSP00000449472.1:n.-80G>C
ENST00000546609.1:c.538G>C
ENST00000547344.5:n.765G>C
ENST00000547451.1:n.426G>C
NM_000785.3:c.626G>C NP_000776.1:p.Cys209Ser
NM_000785.4:c.626G>C MANE Select NP_000776.1:p.Cys209Ser
Search 100 bp 5'
Search 100 bp 3'