Canonical Allele Identifier: CA254240
Gene: CYP1B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7734
ClinVar RCV Id: RCV000008173
dbSNP Id: rs104893622

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071234C>T , CM000664.2:g.38071234C>T GRCh38
NC_000002.10:g.38151881C>T NCBI36
NC_000002.11:g.38298377C>T , CM000664.1:g.38298377C>T GRCh37
NG_008386.2:g.9868G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000492443.1:n.498G>A
ENST00000494864.1:c.7G>A ENSP00000479876.1:p.Asp3Asn
ENST00000610745.4:c.1120G>A ENSP00000478561.1:p.Asp374Asn
ENST00000613082.1:n.515G>A
ENST00000614273.1:c.1120G>A ENSP00000483678.1:p.Asp374Asn
NM_000104.3:c.1120G>A NP_000095.2:p.Asp374Asn