Canonical Allele Identifier: CA45513071

Gene: CYP1B1

Linked Data

• dbSNP Id: rs905648180
• gnomAD v2: 2-38303334-T-G
• gnomAD v3: 2-38076192-T-G
• gnomAD v4: 2-38076192-T-G
• MyVariant Identifiers: chr2:g.38303334T>G (hg19) ; chr2:g.38303334_38303337delinsGAGA (hg19) ; chr2:g.38076192T>G (hg38) ; chr2:g.38076192_38076195delinsGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38076192T>G , CM000664.2:g.38076192T>G	GRCh38
NC_000002.11:g.38303334T>G , CM000664.1:g.38303334T>G	GRCh37
NC_000002.10:g.38156838T>G	NCBI36
NG_008386.2:g.4910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.-175A>C	ENSP00000478839.2:n.-175A>C
ENST00000494864.1:c.-70-4882A>C	ENSP00000479876.1:n.-70-4882A>C
XM_011533236.1:c.806T>G	XP_011531538.1:p.Val269Gly