Canonical Allele Identifier: CA346327943

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 2849349
• ClinVar RCV Id: RCV003758578
• dbSNP Id: rs1682430086
• MyVariant Identifiers: chr2:g.38298440G>A (hg19) ; chr2:g.38071297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071297G>A , CM000664.2:g.38071297G>A	GRCh38
NC_000002.11:g.38298440G>A , CM000664.1:g.38298440G>A	GRCh37
NC_000002.10:g.38151944G>A	NCBI36
NG_008386.2:g.9805C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000490576.2:c.1057C>T	ENSP00000478839.2:p.Gln353Ter
ENST00000610745.5:c.1057C>T MANE Select	ENSP00000478561.1:p.Gln353Ter
ENST00000492443.1:n.435C>T
ENST00000494864.1:c.-57C>T	ENSP00000479876.1:n.-57C>T
ENST00000610745.4:c.1057C>T	ENSP00000478561.1:p.Gln353Ter
ENST00000613082.1:n.452C>T
ENST00000614273.1:c.1057C>T	ENSP00000483678.1:p.Gln353Ter
NM_000104.3:c.1057C>T	NP_000095.2:p.Gln353Ter
NM_000104.4:c.1057C>T MANE Select	NP_000095.2:p.Gln353Ter