Canonical Allele Identifier: CA10615175

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 335951
• ClinVar RCV Id: RCV000292895 ; RCV000347501
• dbSNP Id: rs886055997
• gnomAD v3: 2-38071152-T-C
• gnomAD v4: 2-38071152-T-C
• MyVariant Identifiers: chr2:g.38298295T>C (hg19) ; chr2:g.38071152T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071152T>C , CM000664.2:g.38071152T>C	GRCh38
NC_000002.11:g.38298295T>C , CM000664.1:g.38298295T>C	GRCh37
NC_000002.10:g.38151799T>C	NCBI36
NG_008386.2:g.9950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1202A>G	ENSP00000478839.2:p.His401Arg
ENST00000610745.5:c.1202A>G MANE Select	ENSP00000478561.1:p.His401Arg
ENST00000492443.1:n.580A>G
ENST00000494864.1:c.89A>G	ENSP00000479876.1:p.His30Arg
ENST00000610745.4:c.1202A>G	ENSP00000478561.1:p.His401Arg
ENST00000614273.1:c.1202A>G	ENSP00000483678.1:p.His401Arg
NM_000104.3:c.1202A>G	NP_000095.2:p.His401Arg
NM_000104.4:c.1202A>G MANE Select	NP_000095.2:p.His401Arg