Canonical Allele Identifier: CA1619805
Gene: CYP1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2604653
ClinVar RCV Id: RCV003343284
dbSNP Id: rs149049138
ExAC: 2:38298152 C / T
gnomAD v2: 2-38298152-C-T
gnomAD v3: 2-38071009-C-T
gnomAD v4: 2-38071009-C-T
MyVariant Identifiers: chr2:g.38298152C>T (hg19) chr2:g.38071009C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071009C>T , CM000664.2:g.38071009C>T GRCh38
NC_000002.11:g.38298152C>T , CM000664.1:g.38298152C>T GRCh37
NC_000002.10:g.38151656C>T NCBI36
NG_008386.2:g.10093G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1345G>A ENSP00000478839.2:p.Asp449Asn
ENST00000610745.5:c.1345G>A MANE Select ENSP00000478561.1:p.Asp449Asn
ENST00000492443.1:n.723G>A
ENST00000494864.1:c.232G>A ENSP00000479876.1:p.Asp78Asn
ENST00000610745.4:c.1345G>A ENSP00000478561.1:p.Asp449Asn
ENST00000614273.1:c.1345G>A ENSP00000483678.1:p.Asp449Asn
NM_000104.3:c.1345G>A NP_000095.2:p.Asp449Asn
NM_000104.4:c.1345G>A MANE Select NP_000095.2:p.Asp449Asn
Search 100 bp 5'
Search 100 bp 3'