Canonical Allele Identifier: CA346327042
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38070862-T-G
MyVariant Identifiers: chr2:g.38298005T>G (hg19) chr2:g.38070862T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38070862T>G , CM000664.2:g.38070862T>G GRCh38
NC_000002.11:g.38298005T>G , CM000664.1:g.38298005T>G GRCh37
NC_000002.10:g.38151509T>G NCBI36
NG_008386.2:g.10240A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1492A>C ENSP00000478839.2:p.Asn498His
ENST00000610745.5:c.1492A>C MANE Select ENSP00000478561.1:p.Asn498His
ENST00000494864.1:c.379A>C ENSP00000479876.1:p.Asn127His
ENST00000610745.4:c.1492A>C ENSP00000478561.1:p.Asn498His
ENST00000614273.1:c.1492A>C ENSP00000483678.1:p.Asn498His
NM_000104.3:c.1492A>C NP_000095.2:p.Asn498His
NM_000104.4:c.1492A>C MANE Select NP_000095.2:p.Asn498His
Search 100 bp 5'
Search 100 bp 3'