Canonical Allele Identifier: CA768427088

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1256892033
• gnomAD v3: 2-38076410-A-C
• gnomAD v4: 2-38076410-A-C
• MyVariant Identifiers: chr2:g.38303552A>C (hg19) ; chr2:g.38076410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38076410A>C , CM000664.2:g.38076410A>C	GRCh38
NC_000002.11:g.38303552A>C , CM000664.1:g.38303552A>C	GRCh37
NC_000002.10:g.38157056A>C	NCBI36
NG_008386.2:g.4692T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000494864.1:c.-70-5100T>G	ENSP00000479876.1:n.-70-5100T>G
XM_011533236.1:c.1024A>C	XP_011531538.1:p.Asn342His