Canonical Allele Identifier: CA1620073
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2681122
ClinVar RCV Id: RCV003468657
dbSNP Id: rs750447918
ExAC: 2:38302276 G / A
gnomAD v2: 2-38302276-G-A
gnomAD v3: 2-38075133-G-A
gnomAD v4: 2-38075133-G-A
MyVariant Identifiers: chr2:g.38302276G>A (hg19) chr2:g.38075133G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075133G>A , CM000664.2:g.38075133G>A GRCh38
NC_000002.11:g.38302276G>A , CM000664.1:g.38302276G>A GRCh37
NC_000002.10:g.38155780G>A NCBI36
NG_008386.2:g.5969C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.256C>T ENSP00000478839.2:p.Gln86Ter
ENST00000610745.5:c.256C>T MANE Select ENSP00000478561.1:p.Gln86Ter
ENST00000490576.1:c.256C>T ENSP00000478839.1:p.Gln86Ter
ENST00000494864.1:c.-70-3823C>T ENSP00000479876.1:n.-70-3823C>T
ENST00000610745.4:c.256C>T ENSP00000478561.1:p.Gln86Ter
ENST00000613082.1:n.375+647C>T
ENST00000614273.1:c.256C>T ENSP00000483678.1:p.Gln86Ter
NM_000104.3:c.256C>T NP_000095.2:p.Gln86Ter
NM_000104.4:c.256C>T MANE Select NP_000095.2:p.Gln86Ter
Search 100 bp 5'
Search 100 bp 3'