Canonical Allele Identifier: CA1620103
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500068
dbSNP Id: rs749463699
gnomAD v2: 2-38302391-G-C
gnomAD v3: 2-38075248-G-C
gnomAD v4: 2-38075248-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075248G>C , CM000664.2:g.38075248G>C GRCh38
NC_000002.11:g.38302391G>C , CM000664.1:g.38302391G>C GRCh37
NC_000002.10:g.38155895G>C NCBI36
NG_008386.2:g.5854C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.141C>G ENSP00000478839.2:p.Leu47=
ENST00000610745.5:c.141C>G MANE Select ENSP00000478561.1:p.Leu47=
ENST00000490576.1:c.141C>G ENSP00000478839.1:p.Leu47=
ENST00000494864.1:c.-70-3938C>G ENSP00000479876.1:n.-70-3938C>G
ENST00000610745.4:c.141C>G ENSP00000478561.1:p.Leu47=
ENST00000613082.1:n.375+532C>G
ENST00000614273.1:c.141C>G ENSP00000483678.1:p.Leu47=
NM_000104.3:c.141C>G NP_000095.2:p.Leu47=
NM_000104.4:c.141C>G MANE Select NP_000095.2:p.Leu47=