Canonical Allele Identifier: CA254239

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 7733
• ClinVar RCV Id: RCV000008172 ; RCV000255845 ; RCV003466833 ; RCV003155021 ; RCV002512894
• dbSNP Id: rs28936701
• ExAC: 2:38298092 G / A
• gnomAD v2: 2-38298092-G-A
• gnomAD v3: 2-38070949-G-A
• gnomAD v4: 2-38070949-G-A
• COSMIC: COSM4094139
• MyVariant Identifiers: chr2:g.38298092G>A (hg19) ; chr2:g.38070949G>A (hg38)
• PubMed: PMID:9463332

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070949G>A , CM000664.2:g.38070949G>A	GRCh38
NC_000002.11:g.38298092G>A , CM000664.1:g.38298092G>A	GRCh37
NC_000002.10:g.38151596G>A	NCBI36
NG_008386.2:g.10153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1405C>T	ENSP00000478839.2:p.Arg469Trp
ENST00000610745.5:c.1405C>T MANE Select	ENSP00000478561.1:p.Arg469Trp
ENST00000494864.1:c.292C>T	ENSP00000479876.1:p.Arg98Trp
ENST00000610745.4:c.1405C>T	ENSP00000478561.1:p.Arg469Trp
ENST00000614273.1:c.1405C>T	ENSP00000483678.1:p.Arg469Trp
NM_000104.3:c.1405C>T	NP_000095.2:p.Arg469Trp
NM_000104.4:c.1405C>T MANE Select	NP_000095.2:p.Arg469Trp