Canonical Allele Identifier: CA1619796

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2843195
• ClinVar RCV Id: RCV003758476
• dbSNP Id: rs766259019
• ExAC: 2:38298117 C / T
• gnomAD v2: 2-38298117-C-T
• gnomAD v3: 2-38070974-C-T
• gnomAD v4: 2-38070974-C-T
• MyVariant Identifiers: chr2:g.38298117C>T (hg19) ; chr2:g.38070974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070974C>T , CM000664.2:g.38070974C>T	GRCh38
NC_000002.11:g.38298117C>T , CM000664.1:g.38298117C>T	GRCh37
NC_000002.10:g.38151621C>T	NCBI36
NG_008386.2:g.10128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1380G>A	ENSP00000478839.2:p.Val460=
ENST00000610745.5:c.1380G>A MANE Select	ENSP00000478561.1:p.Val460=
ENST00000494864.1:c.267G>A	ENSP00000479876.1:p.Val89=
ENST00000610745.4:c.1380G>A	ENSP00000478561.1:p.Val460=
ENST00000614273.1:c.1380G>A	ENSP00000483678.1:p.Val460=
NM_000104.3:c.1380G>A	NP_000095.2:p.Val460=
NM_000104.4:c.1380G>A MANE Select	NP_000095.2:p.Val460=