Canonical Allele Identifier: CA45513237
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs9341243
gnomAD v4: 2-38076421-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076421G>A , CM000664.2:g.38076421G>A GRCh38
NC_000002.11:g.38303563G>A , CM000664.1:g.38303563G>A GRCh37
NC_000002.10:g.38157067G>A NCBI36
NG_008386.2:g.4681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000494864.1:c.-70-5111C>T ENSP00000479876.1:n.-70-5111C>T
XM_011533236.1:c.1035G>A XP_011531538.1:p.Arg345=