Canonical Allele Identifier: CA2658668446
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38076416-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076416G>C , CM000664.2:g.38076416G>C GRCh38
NC_000002.11:g.38303558G>C , CM000664.1:g.38303558G>C GRCh37
NC_000002.10:g.38157062G>C NCBI36
NG_008386.2:g.4686C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494864.1:c.-70-5106C>G ENSP00000479876.1:n.-70-5106C>G
XM_011533236.1:c.1030G>C XP_011531538.1:p.Ala344Pro