Canonical Allele Identifier: CA2658668332
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38076322-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076322C>T , CM000664.2:g.38076322C>T GRCh38
NC_000002.11:g.38303464C>T , CM000664.1:g.38303464C>T GRCh37
NC_000002.10:g.38156968C>T NCBI36
NG_008386.2:g.4780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494864.1:c.-70-5012G>A ENSP00000479876.1:n.-70-5012G>A
XM_011533236.1:c.936C>T XP_011531538.1:p.Phe312=