Canonical Allele Identifier: CA254239
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7733
dbSNP Id: rs28936701
gnomAD v2: 2-38298092-G-A
gnomAD v3: 2-38070949-G-A
gnomAD v4: 2-38070949-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070949G>A , CM000664.2:g.38070949G>A GRCh38
NC_000002.11:g.38298092G>A , CM000664.1:g.38298092G>A GRCh37
NC_000002.10:g.38151596G>A NCBI36
NG_008386.2:g.10153C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1405C>T ENSP00000478839.2:p.Arg469Trp
ENST00000610745.5:c.1405C>T MANE Select ENSP00000478561.1:p.Arg469Trp
ENST00000494864.1:c.292C>T ENSP00000479876.1:p.Arg98Trp
ENST00000610745.4:c.1405C>T ENSP00000478561.1:p.Arg469Trp
ENST00000614273.1:c.1405C>T ENSP00000483678.1:p.Arg469Trp
NM_000104.3:c.1405C>T NP_000095.2:p.Arg469Trp
NM_000104.4:c.1405C>T MANE Select NP_000095.2:p.Arg469Trp