Canonical Allele Identifier: CA6658148
Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 742940
ClinVar RCV Id: RCV000919254
dbSNP Id: rs752504237
ExAC: 12:58157454 G / C
gnomAD v2: 12-58157454-G-C
gnomAD v3: 12-57763671-G-C
gnomAD v4: 12-57763671-G-C
MyVariant Identifiers: chr12:g.58157454G>C (hg19) chr12:g.57763671G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57763671G>C , CM000674.2:g.57763671G>C GRCh38
NC_000012.11:g.58157454G>C , CM000674.1:g.58157454G>C GRCh37
NC_000012.10:g.56443721G>C NCBI36
NG_007076.1:g.8523C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000713544.1:c.1434C>G ENSP00000518840.1:p.Gly478=
ENST00000713545.1:c.*358C>G ENSP00000518841.1:n.*358C>G
ENST00000228606.9:c.1353C>G MANE Select ENSP00000228606.4:p.Gly451=
ENST00000228606.8:c.1353C>G ENSP00000228606.4:p.Gly451=
ENST00000547344.5:n.1492C>G
NM_000785.3:c.1353C>G NP_000776.1:p.Gly451=
NM_000785.4:c.1353C>G MANE Select NP_000776.1:p.Gly451=
Search 100 bp 5'
Search 100 bp 3'