Canonical Allele Identifier: CA1620134
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2906262
ClinVar RCV Id: RCV003760412
dbSNP Id: rs756517265
ExAC: 2:38302526 G / T
gnomAD v2: 2-38302526-G-T
gnomAD v3: 2-38075383-G-T
gnomAD v4: 2-38075383-G-T
MyVariant Identifiers: chr2:g.38302526G>T (hg19) chr2:g.38075383G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075383G>T , CM000664.2:g.38075383G>T GRCh38
NC_000002.11:g.38302526G>T , CM000664.1:g.38302526G>T GRCh37
NC_000002.10:g.38156030G>T NCBI36
NG_008386.2:g.5719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.6C>A ENSP00000478839.2:p.Gly2=
ENST00000610745.5:c.6C>A MANE Select ENSP00000478561.1:p.Gly2=
ENST00000490576.1:c.6C>A ENSP00000478839.1:p.Gly2=
ENST00000494864.1:c.-70-4073C>A ENSP00000479876.1:n.-70-4073C>A
ENST00000610745.4:c.6C>A ENSP00000478561.1:p.Gly2=
ENST00000613082.1:n.375+397C>A
ENST00000614273.1:c.6C>A ENSP00000483678.1:p.Gly2=
NM_000104.3:c.6C>A NP_000095.2:p.Gly2=
NM_000104.4:c.6C>A MANE Select NP_000095.2:p.Gly2=
Search 100 bp 5'
Search 100 bp 3'