Canonical Allele Identifier: CA179956
Gene: CYP1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.38075401G>A
GRCh37 chr2:g.38302544G>A
gnomAD v2:
2:38302544 G / A
gnomAD v3:
2:38075401 G / A
gnomAD v4:
chr2-38075401-G-A
Joint Max Group AF 0.36505425 (SAS)
Genomes Max Group AF 0.36473424 (SAS)
Exomes Max Group AF 0.36435591 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075401G>A , CM000664.2:g.38075401G>A GRCh38
NC_000002.11:g.38302544G>A , CM000664.1:g.38302544G>A GRCh37
NC_000002.10:g.38156048G>A NCBI36
NG_008386.2:g.5701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-12C>T ENSP00000478839.2:n.-1-12C>T
ENST00000610745.5:c.-1-12C>T MANE Select ENSP00000478561.1:n.-1-12C>T
ENST00000490576.1:c.-1-12C>T ENSP00000478839.1:n.-1-12C>T
ENST00000494864.1:c.-70-4091C>T ENSP00000479876.1:n.-70-4091C>T
ENST00000610745.4:c.-1-12C>T ENSP00000478561.1:n.-1-12C>T
ENST00000613082.1:n.375+379C>T
ENST00000614273.1:c.-1-12C>T ENSP00000483678.1:n.-1-12C>T
NM_000104.3:c.-1-12C>T NP_000095.2:n.-1-12C>T
XM_011533236.1:c.15G>A XP_011531538.1:p.Glu5=
NM_000104.4:c.-1-12C>T MANE Select NP_000095.2:n.-1-12C>T
Search 100 bp 5'
Search 100 bp 3'