Canonical Allele Identifier: CA45513161

Gene: CYP1B1

Linked Data

• dbSNP Id: rs1008214825
• gnomAD v2: 2-38303436-C-G
• gnomAD v3: 2-38076294-C-G
• gnomAD v4: 2-38076294-C-G
• MyVariant Identifiers: chr2:g.38303436C>G (hg19) ; chr2:g.38076294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38076294C>G , CM000664.2:g.38076294C>G	GRCh38
NC_000002.11:g.38303436C>G , CM000664.1:g.38303436C>G	GRCh37
NC_000002.10:g.38156940C>G	NCBI36
NG_008386.2:g.4808G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494864.1:c.-70-4984G>C	ENSP00000479876.1:n.-70-4984G>C
XM_011533236.1:c.908C>G	XP_011531538.1:p.Pro303Arg