Canonical Allele Identifier: CA1139655571

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 973773
• ClinVar RCV Id: RCV001250445
• dbSNP Id: rs761216127

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071313G>C , CM000664.2:g.38071313G>C	GRCh38
NC_000002.11:g.38298456G>C , CM000664.1:g.38298456G>C	GRCh37
NC_000002.10:g.38151960G>C	NCBI36
NG_008386.2:g.9789C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1044-3C>G	ENSP00000478839.2:n.1044-3C>G
ENST00000610745.5:c.1044-3C>G MANE Select	ENSP00000478561.1:n.1044-3C>G
ENST00000492443.1:n.422-3C>G
ENST00000494864.1:c.-70-3C>G	ENSP00000479876.1:n.-70-3C>G
ENST00000610745.4:c.1044-3C>G	ENSP00000478561.1:n.1044-3C>G
ENST00000613082.1:n.439-3C>G
ENST00000614273.1:c.1044-3C>G	ENSP00000483678.1:n.1044-3C>G
NM_000104.3:c.1044-3C>G	NP_000095.2:n.1044-3C>G
NM_000104.4:c.1044-3C>G MANE Select	NP_000095.2:n.1044-3C>G