Canonical Allele Identifier: CA346327979

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 1339135
• ClinVar RCV Id: RCV001823589
• dbSNP Id: rs1389588817
• gnomAD v2: 2-38298455-T-C
• gnomAD v4: 2-38071312-T-C
• MyVariant Identifiers: chr2:g.38298455T>C (hg19) ; chr2:g.38071312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071312T>C , CM000664.2:g.38071312T>C	GRCh38
NC_000002.11:g.38298455T>C , CM000664.1:g.38298455T>C	GRCh37
NC_000002.10:g.38151959T>C	NCBI36
NG_008386.2:g.9790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1044-2A>G	ENSP00000478839.2:n.1044-2A>G
ENST00000610745.5:c.1044-2A>G MANE Select	ENSP00000478561.1:n.1044-2A>G
ENST00000492443.1:n.422-2A>G
ENST00000494864.1:c.-70-2A>G	ENSP00000479876.1:n.-70-2A>G
ENST00000610745.4:c.1044-2A>G	ENSP00000478561.1:n.1044-2A>G
ENST00000613082.1:n.439-2A>G
ENST00000614273.1:c.1044-2A>G	ENSP00000483678.1:n.1044-2A>G
NM_000104.3:c.1044-2A>G	NP_000095.2:n.1044-2A>G
NM_000104.4:c.1044-2A>G MANE Select	NP_000095.2:n.1044-2A>G