Canonical Allele Identifier: CA346329508
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075077-G-T
MyVariant Identifiers: chr2:g.38302220G>T (hg19) chr2:g.38075077G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075077G>T , CM000664.2:g.38075077G>T GRCh38
NC_000002.11:g.38302220G>T , CM000664.1:g.38302220G>T GRCh37
NC_000002.10:g.38155724G>T NCBI36
NG_008386.2:g.6025C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.312C>A ENSP00000478839.2:p.His104Gln
ENST00000610745.5:c.312C>A MANE Select ENSP00000478561.1:p.His104Gln
ENST00000490576.1:c.312C>A ENSP00000478839.1:p.His104Gln
ENST00000494864.1:c.-70-3767C>A ENSP00000479876.1:n.-70-3767C>A
ENST00000610745.4:c.312C>A ENSP00000478561.1:p.His104Gln
ENST00000613082.1:n.376-669C>A
ENST00000614273.1:c.312C>A ENSP00000483678.1:p.His104Gln
NM_000104.3:c.312C>A NP_000095.2:p.His104Gln
NM_000104.4:c.312C>A MANE Select NP_000095.2:p.His104Gln
Search 100 bp 5'
Search 100 bp 3'