Canonical Allele Identifier: CA346327836
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1373422312
gnomAD v2: 2-38298385-C-G
gnomAD v3: 2-38071242-C-G
gnomAD v4: 2-38071242-C-G
MyVariant Identifiers: chr2:g.38298385C>G (hg19) chr2:g.38071242C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071242C>G , CM000664.2:g.38071242C>G GRCh38
NC_000002.11:g.38298385C>G , CM000664.1:g.38298385C>G GRCh37
NC_000002.10:g.38151889C>G NCBI36
NG_008386.2:g.9860G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1112G>C ENSP00000478839.2:p.Cys371Ser
ENST00000610745.5:c.1112G>C MANE Select ENSP00000478561.1:p.Cys371Ser
ENST00000492443.1:n.490G>C
ENST00000494864.1:c.-2G>C ENSP00000479876.1:n.-2G>C
ENST00000610745.4:c.1112G>C ENSP00000478561.1:p.Cys371Ser
ENST00000613082.1:n.507G>C
ENST00000614273.1:c.1112G>C ENSP00000483678.1:p.Cys371Ser
NM_000104.3:c.1112G>C NP_000095.2:p.Cys371Ser
NM_000104.4:c.1112G>C MANE Select NP_000095.2:p.Cys371Ser
Search 100 bp 5'
Search 100 bp 3'