Canonical Allele Identifier: CA425690746

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2856798
• ClinVar RCV Id: RCV003759204
• dbSNP Id: rs1478742164
• gnomAD v2: 2-38298327-G-A
• gnomAD v3: 2-38071184-G-A
• gnomAD v4: 2-38071184-G-A
• MyVariant Identifiers: chr2:g.38298327G>A (hg19) ; chr2:g.38071184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071184G>A , CM000664.2:g.38071184G>A	GRCh38
NC_000002.11:g.38298327G>A , CM000664.1:g.38298327G>A	GRCh37
NC_000002.10:g.38151831G>A	NCBI36
NG_008386.2:g.9918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1170C>T	ENSP00000478839.2:p.Arg390=
ENST00000610745.5:c.1170C>T MANE Select	ENSP00000478561.1:p.Arg390=
ENST00000492443.1:n.548C>T
ENST00000494864.1:c.57C>T	ENSP00000479876.1:p.Arg19=
ENST00000610745.4:c.1170C>T	ENSP00000478561.1:p.Arg390=
ENST00000613082.1:n.565C>T
ENST00000614273.1:c.1170C>T	ENSP00000483678.1:p.Arg390=
NM_000104.3:c.1170C>T	NP_000095.2:p.Arg390=
NM_000104.4:c.1170C>T MANE Select	NP_000095.2:p.Arg390=