Canonical Allele Identifier: CA119016

Gene: CYP1B1

Linked Data

• ClinVar Variation Id: 7739
• ClinVar RCV Id: RCV000008178 ; RCV000023146 ; RCV000059335 ; RCV000489962 ; RCV000709869 ; RCV000778148 ; RCV000844695 ; RCV001083921 ; RCV001258308 ; RCV003466835
• dbSNP Id: rs79204362
• ExAC: 2:38298394 C / T
• gnomAD v2: 2-38298394-C-T
• gnomAD v3: 2-38071251-C-T
• gnomAD v4: 2-38071251-C-T
• MyVariant Identifiers: chr2:g.38298394C>T (hg19) ; chr2:g.38071251C>T (hg38)
• PubMed: PMID:10655546 ; PMID:11774072 ; PMID:14507861 ; PMID:17591938 ; PMID:17718864 ; PMID:18622259 ; PMID:19643970 ; PMID:21081970 ; PMID:23028769 ; PMID:24281366 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38071251C>T , CM000664.2:g.38071251C>T	GRCh38
NC_000002.11:g.38298394C>T , CM000664.1:g.38298394C>T	GRCh37
NC_000002.10:g.38151898C>T	NCBI36
NG_008386.2:g.9851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490576.2:c.1103G>A	ENSP00000478839.2:p.Arg368His
ENST00000610745.5:c.1103G>A MANE Select	ENSP00000478561.1:p.Arg368His
ENST00000492443.1:n.481G>A
ENST00000494864.1:c.-11G>A	ENSP00000479876.1:n.-11G>A
ENST00000610745.4:c.1103G>A	ENSP00000478561.1:p.Arg368His
ENST00000613082.1:n.498G>A
ENST00000614273.1:c.1103G>A	ENSP00000483678.1:p.Arg368His
NM_000104.3:c.1103G>A	NP_000095.2:p.Arg368His
NM_000104.4:c.1103G>A MANE Select	NP_000095.2:p.Arg368His