Canonical Allele Identifier: CA1029495297
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682537272
gnomAD v3: 2-38076199-A-C
gnomAD v4: 2-38076199-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076199A>C , CM000664.2:g.38076199A>C GRCh38
NC_000002.11:g.38303341A>C , CM000664.1:g.38303341A>C GRCh37
NC_000002.10:g.38156845A>C NCBI36
NG_008386.2:g.4903T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494864.1:c.-70-4889T>G ENSP00000479876.1:n.-70-4889T>G
XM_011533236.1:c.813A>C XP_011531538.1:p.Gly271=