Canonical Allele Identifier: CA346329481
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075062-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075062C>G , CM000664.2:g.38075062C>G GRCh38
NC_000002.11:g.38302205C>G , CM000664.1:g.38302205C>G GRCh37
NC_000002.10:g.38155709C>G NCBI36
NG_008386.2:g.6040G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.327G>C ENSP00000478839.2:p.Gln109His
ENST00000610745.5:c.327G>C MANE Select ENSP00000478561.1:p.Gln109His
ENST00000490576.1:c.327G>C ENSP00000478839.1:p.Gln109His
ENST00000494864.1:c.-70-3752G>C ENSP00000479876.1:n.-70-3752G>C
ENST00000610745.4:c.327G>C ENSP00000478561.1:p.Gln109His
ENST00000613082.1:n.376-654G>C
ENST00000614273.1:c.327G>C ENSP00000483678.1:p.Gln109His
NM_000104.3:c.327G>C NP_000095.2:p.Gln109His
NM_000104.4:c.327G>C MANE Select NP_000095.2:p.Gln109His