Canonical Allele Identifier: CA425864599

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1165337925
• gnomAD v3: 2-38071160-A-C
• gnomAD v4: 2-38071160-A-C
• MyVariant Identifiers: chr2:g.38298303A>C (hg19) ; chr2:g.38071160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071160A>C , CM000664.2:g.38071160A>C	GRCh38
NC_000002.11:g.38298303A>C , CM000664.1:g.38298303A>C	GRCh37
NC_000002.10:g.38151807A>C	NCBI36
NG_008386.2:g.9942T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1194T>G	ENSP00000478839.2:p.Thr398=
ENST00000610745.5:c.1194T>G MANE Select	ENSP00000478561.1:p.Thr398=
ENST00000492443.1:n.572T>G
ENST00000494864.1:c.81T>G	ENSP00000479876.1:p.Thr27=
ENST00000610745.4:c.1194T>G	ENSP00000478561.1:p.Thr398=
ENST00000614273.1:c.1194T>G	ENSP00000483678.1:p.Thr398=
NM_000104.3:c.1194T>G	NP_000095.2:p.Thr398=
NM_000104.4:c.1194T>G MANE Select	NP_000095.2:p.Thr398=