Canonical Allele Identifier: CA425864866
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2857063
ClinVar RCV Id: RCV003759207
dbSNP Id: rs1273564916
gnomAD v2: 2-38302325-C-G
gnomAD v4: 2-38075182-C-G
MyVariant Identifiers: chr2:g.38302325C>G (hg19) chr2:g.38075182C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075182C>G , CM000664.2:g.38075182C>G GRCh38
NC_000002.11:g.38302325C>G , CM000664.1:g.38302325C>G GRCh37
NC_000002.10:g.38155829C>G NCBI36
NG_008386.2:g.5920G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.207G>C ENSP00000478839.2:p.Ala69=
ENST00000610745.5:c.207G>C MANE Select ENSP00000478561.1:p.Ala69=
ENST00000490576.1:c.207G>C ENSP00000478839.1:p.Ala69=
ENST00000494864.1:c.-70-3872G>C ENSP00000479876.1:n.-70-3872G>C
ENST00000610745.4:c.207G>C ENSP00000478561.1:p.Ala69=
ENST00000613082.1:n.375+598G>C
ENST00000614273.1:c.207G>C ENSP00000483678.1:p.Ala69=
NM_000104.3:c.207G>C NP_000095.2:p.Ala69=
NM_000104.4:c.207G>C MANE Select NP_000095.2:p.Ala69=
Search 100 bp 5'
Search 100 bp 3'