Canonical Allele Identifier: CA1620061

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2886547
• ClinVar RCV Id: RCV003760136
• dbSNP Id: rs781037234
• ExAC: 2:38302238 A / G
• gnomAD v2: 2-38302238-A-G
• gnomAD v3: 2-38075095-A-G
• gnomAD v4: 2-38075095-A-G
• MyVariant Identifiers: chr2:g.38302238A>G (hg19) ; chr2:g.38075095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38075095A>G , CM000664.2:g.38075095A>G	GRCh38
NC_000002.11:g.38302238A>G , CM000664.1:g.38302238A>G	GRCh37
NC_000002.10:g.38155742A>G	NCBI36
NG_008386.2:g.6007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.294T>C	ENSP00000478839.2:p.Asn98=
ENST00000610745.5:c.294T>C MANE Select	ENSP00000478561.1:p.Asn98=
ENST00000490576.1:c.294T>C	ENSP00000478839.1:p.Asn98=
ENST00000494864.1:c.-70-3785T>C	ENSP00000479876.1:n.-70-3785T>C
ENST00000610745.4:c.294T>C	ENSP00000478561.1:p.Asn98=
ENST00000613082.1:n.375+685T>C
ENST00000614273.1:c.294T>C	ENSP00000483678.1:p.Asn98=
NM_000104.3:c.294T>C	NP_000095.2:p.Asn98=
NM_000104.4:c.294T>C MANE Select	NP_000095.2:p.Asn98=