Canonical Allele Identifier: CA254238
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7732
ClinVar RCV Id: RCV000008171
dbSNP Id: rs55771538
gnomAD v2: 2-38298404-C-A
gnomAD v4: 2-38071261-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071261C>A , CM000664.2:g.38071261C>A GRCh38
NC_000002.11:g.38298404C>A , CM000664.1:g.38298404C>A GRCh37
NC_000002.10:g.38151908C>A NCBI36
NG_008386.2:g.9841G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1093G>T ENSP00000478839.2:p.Gly365Trp
ENST00000610745.5:c.1093G>T MANE Select ENSP00000478561.1:p.Gly365Trp
ENST00000492443.1:n.471G>T
ENST00000494864.1:c.-21G>T ENSP00000479876.1:n.-21G>T
ENST00000610745.4:c.1093G>T ENSP00000478561.1:p.Gly365Trp
ENST00000613082.1:n.488G>T
ENST00000614273.1:c.1093G>T ENSP00000483678.1:p.Gly365Trp
NM_000104.3:c.1093G>T NP_000095.2:p.Gly365Trp
NM_000104.4:c.1093G>T MANE Select NP_000095.2:p.Gly365Trp