Canonical Allele Identifier: CA179945

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 166969
• ClinVar RCV Id: RCV000153124 ; RCV000296245 ; RCV000997117 ; RCV001521679 ; RCV001657869 ; RCV002498727
• dbSNP Id: rs1800440
• ExAC: 2:38298139 T / C
• gnomAD v2: 2-38298139-T-C
• gnomAD v3: 2-38070996-T-C
• gnomAD v4: 2-38070996-T-C
• MyVariant Identifiers: chr2:g.38298139T>C (hg19) ; chr2:g.38070996T>C (hg38)
• PubMed: PMID:10426814

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38070996T>C , CM000664.2:g.38070996T>C	GRCh38
NC_000002.11:g.38298139T>C , CM000664.1:g.38298139T>C	GRCh37
NC_000002.10:g.38151643T>C	NCBI36
NG_008386.2:g.10106A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1358A>G	ENSP00000478839.2:p.Asn453Ser
ENST00000610745.5:c.1358A>G MANE Select	ENSP00000478561.1:p.Asn453Ser
ENST00000492443.1:n.736A>G
ENST00000494864.1:c.245A>G	ENSP00000479876.1:p.Asn82Ser
ENST00000610745.4:c.1358A>G	ENSP00000478561.1:p.Asn453Ser
ENST00000614273.1:c.1358A>G	ENSP00000483678.1:p.Asn453Ser
NM_000104.3:c.1358A>G	NP_000095.2:p.Asn453Ser
NM_000104.4:c.1358A>G MANE Select	NP_000095.2:p.Asn453Ser