Canonical Allele Identifier: CA425864322
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38070959C>T
GRCh37 chr2:g.38298102C>T
gnomAD v2:
2:38298102 C / T
gnomAD v3:
2:38070959 C / T
gnomAD v4:
chr2-38070959-C-T
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV005152063
ClinVar Variation:
3676643
dbSNP:
1473938698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070959C>T , CM000664.2:g.38070959C>T GRCh38
NC_000002.11:g.38298102C>T , CM000664.1:g.38298102C>T GRCh37
NC_000002.10:g.38151606C>T NCBI36
NG_008386.2:g.10143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1395G>A ENSP00000478839.2:p.Val465=
ENST00000610745.5:c.1395G>A MANE Select ENSP00000478561.1:p.Val465=
ENST00000494864.1:c.282G>A ENSP00000479876.1:p.Val94=
ENST00000610745.4:c.1395G>A ENSP00000478561.1:p.Val465=
ENST00000614273.1:c.1395G>A ENSP00000483678.1:p.Val465=
NM_000104.3:c.1395G>A NP_000095.2:p.Val465=
NM_000104.4:c.1395G>A MANE Select NP_000095.2:p.Val465=
Search 100 bp 5'
Search 100 bp 3'