Canonical Allele Identifier: CA1619804
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456639
ClinVar RCV Id: RCV003470722 RCV002231224
dbSNP Id: rs749073455
ExAC: 2:38298151 TC / T
gnomAD v2: 2-38298151-TC-T
gnomAD v3: 2-38071008-TC-T
gnomAD v4: 2-38071008-TC-T
MyVariant Identifiers: chr2:g.38298152del (hg19) chr2:g.38071009del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071010del , CM000664.2:g.38071010del GRCh38
NC_000002.11:g.38298153del , CM000664.1:g.38298153del GRCh37
NC_000002.10:g.38151657del NCBI36
NG_008386.2:g.10093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1345del ENSP00000478839.2:p.Asp449MetfsTer8
ENST00000610745.5:c.1345del MANE Select ENSP00000478561.1:p.Asp449MetfsTer8
ENST00000492443.1:n.723del
ENST00000494864.1:c.232del ENSP00000479876.1:p.Asp78MetfsTer8
ENST00000610745.4:c.1345del ENSP00000478561.1:p.Asp449MetfsTer8
ENST00000614273.1:c.1345del ENSP00000483678.1:p.Asp449MetfsTer8
NM_000104.3:c.1345del NP_000095.2:p.Asp449MetfsTer8
NM_000104.4:c.1345del MANE Select NP_000095.2:p.Asp449MetfsTer8
Search 100 bp 5'
Search 100 bp 3'