Canonical Allele Identifier: CA768426955
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1417690017
gnomAD v3: 2-38076213-T-C
gnomAD v4: 2-38076213-T-C
MyVariant Identifiers: chr2:g.38303355T>C (hg19) chr2:g.38076213T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38076213T>C , CM000664.2:g.38076213T>C GRCh38
NC_000002.11:g.38303355T>C , CM000664.1:g.38303355T>C GRCh37
NC_000002.10:g.38156859T>C NCBI36
NG_008386.2:g.4889A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494864.1:c.-70-4903A>G ENSP00000479876.1:n.-70-4903A>G
XM_011533236.1:c.827T>C XP_011531538.1:p.Leu276Pro
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