Canonical Allele Identifier: CA1620112
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2725555
ClinVar RCV Id: RCV003595413
dbSNP Id: rs761360054
ExAC: 2:38302448 C / G
gnomAD v2: 2-38302448-C-G
gnomAD v4: 2-38075305-C-G
MyVariant Identifiers: chr2:g.38302448C>G (hg19) chr2:g.38075305C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075305C>G , CM000664.2:g.38075305C>G GRCh38
NC_000002.11:g.38302448C>G , CM000664.1:g.38302448C>G GRCh37
NC_000002.10:g.38155952C>G NCBI36
NG_008386.2:g.5797G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.84G>C ENSP00000478839.2:p.Ser28=
ENST00000610745.5:c.84G>C MANE Select ENSP00000478561.1:p.Ser28=
ENST00000490576.1:c.84G>C ENSP00000478839.1:p.Ser28=
ENST00000494864.1:c.-70-3995G>C ENSP00000479876.1:n.-70-3995G>C
ENST00000610745.4:c.84G>C ENSP00000478561.1:p.Ser28=
ENST00000613082.1:n.375+475G>C
ENST00000614273.1:c.84G>C ENSP00000483678.1:p.Ser28=
NM_000104.3:c.84G>C NP_000095.2:p.Ser28=
NM_000104.4:c.84G>C MANE Select NP_000095.2:p.Ser28=
Search 100 bp 5'
Search 100 bp 3'