Canonical Allele Identifier: CA179947

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 166970
• ClinVar RCV Id: RCV000153125 ; RCV000351205 ; RCV000387120 ; RCV001521680 ; RCV001610462 ; RCV001657870
• dbSNP Id: rs1056837
• ExAC: 2:38298150 A / G
• gnomAD v2: 2-38298150-A-G
• gnomAD v3: 2-38071007-A-G
• gnomAD v4: 2-38071007-A-G
• MyVariant Identifiers: chr2:g.38298150A>G (hg19) ; chr2:g.38071007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071007A>G , CM000664.2:g.38071007A>G	GRCh38
NC_000002.11:g.38298150A>G , CM000664.1:g.38298150A>G	GRCh37
NC_000002.10:g.38151654A>G	NCBI36
NG_008386.2:g.10095T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1347T>C	ENSP00000478839.2:p.Asp449=
ENST00000610745.5:c.1347T>C MANE Select	ENSP00000478561.1:p.Asp449=
ENST00000492443.1:n.725T>C
ENST00000494864.1:c.234T>C	ENSP00000479876.1:p.Asp78=
ENST00000610745.4:c.1347T>C	ENSP00000478561.1:p.Asp449=
ENST00000614273.1:c.1347T>C	ENSP00000483678.1:p.Asp449=
NM_000104.3:c.1347T>C	NP_000095.2:p.Asp449=
NM_000104.4:c.1347T>C MANE Select	NP_000095.2:p.Asp449=