Canonical Allele Identifier: CA346327372

Gene: CYP1B1

Linked Data

• dbSNP Id: rs373896870
• gnomAD v2: 2-38298159-C-G
• gnomAD v4: 2-38071016-C-G
• MyVariant Identifiers: chr2:g.38298159C>G (hg19) ; chr2:g.38071016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071016C>G , CM000664.2:g.38071016C>G	GRCh38
NC_000002.11:g.38298159C>G , CM000664.1:g.38298159C>G	GRCh37
NC_000002.10:g.38151663C>G	NCBI36
NG_008386.2:g.10086G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1338G>C	ENSP00000478839.2:p.Leu446Phe
ENST00000610745.5:c.1338G>C MANE Select	ENSP00000478561.1:p.Leu446Phe
ENST00000492443.1:n.716G>C
ENST00000494864.1:c.225G>C	ENSP00000479876.1:p.Leu75Phe
ENST00000610745.4:c.1338G>C	ENSP00000478561.1:p.Leu446Phe
ENST00000614273.1:c.1338G>C	ENSP00000483678.1:p.Leu446Phe
NM_000104.3:c.1338G>C	NP_000095.2:p.Leu446Phe
NM_000104.4:c.1338G>C MANE Select	NP_000095.2:p.Leu446Phe