Canonical Allele Identifier: CA425690746
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2856798
ClinVar RCV Id: RCV003759204
dbSNP Id: rs1478742164
gnomAD v2: 2-38298327-G-A
gnomAD v3: 2-38071184-G-A
gnomAD v4: 2-38071184-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071184G>A , CM000664.2:g.38071184G>A GRCh38
NC_000002.11:g.38298327G>A , CM000664.1:g.38298327G>A GRCh37
NC_000002.10:g.38151831G>A NCBI36
NG_008386.2:g.9918C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1170C>T ENSP00000478839.2:p.Arg390=
ENST00000610745.5:c.1170C>T MANE Select ENSP00000478561.1:p.Arg390=
ENST00000492443.1:n.548C>T
ENST00000494864.1:c.57C>T ENSP00000479876.1:p.Arg19=
ENST00000610745.4:c.1170C>T ENSP00000478561.1:p.Arg390=
ENST00000613082.1:n.565C>T
ENST00000614273.1:c.1170C>T ENSP00000483678.1:p.Arg390=
NM_000104.3:c.1170C>T NP_000095.2:p.Arg390=
NM_000104.4:c.1170C>T MANE Select NP_000095.2:p.Arg390=