Canonical Allele Identifier: CA1619868
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282564
ClinVar RCV Id: RCV000260225 RCV000695529 RCV001250446 RCV001730655 RCV002503986
dbSNP Id: rs72549380
ExAC: 2:38298420 TTCTGCCTGCACTC / T
gnomAD v2: 2-38298420-TTCTGCCTGCACTC-T
gnomAD v3: 2-38071277-TTCTGCCTGCACTC-T
gnomAD v4: 2-38071277-TTCTGCCTGCACTC-T
MyVariant Identifiers: chr2:g.38298421_38298433del (hg19) chr2:g.38071278_38071290del (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071278_38071290del , CM000664.2:g.38071278_38071290del GRCh38
NC_000002.11:g.38298421_38298433del , CM000664.1:g.38298421_38298433del GRCh37
NC_000002.10:g.38151925_38151937del NCBI36
NG_008386.2:g.9812_9824del

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1064_1076del ENSP00000478839.2:p.Arg355HisfsTer?
ENST00000610745.5:c.1064_1076del MANE Select ENSP00000478561.1:p.Arg355HisfsTer?
ENST00000492443.1:n.442_454del
ENST00000494864.1:c.-50_-38del ENSP00000479876.1:n.-50_-38del
ENST00000610745.4:c.1064_1076del ENSP00000478561.1:p.Arg355HisfsTer?
ENST00000613082.1:n.459_471del
ENST00000614273.1:c.1064_1076del ENSP00000483678.1:p.Arg355HisfsTer?
NM_000104.3:c.1064_1076del NP_000095.2:p.Arg355HisfsTer?
NM_000104.4:c.1064_1076del MANE Select NP_000095.2:p.Arg355HisfsTer?
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