Canonical Allele Identifier: CA1139664099
Gene: CHRNA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 873308
ClinVar RCV Id: RCV001095526
dbSNP Id: rs2053207945

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601918del , CM000677.2:g.78601918del GRCh38
NC_000015.9:g.78894260del , CM000677.1:g.78894260del GRCh37
NC_000015.8:g.76681315del NCBI36
NG_016143.1:g.24379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.725del MANE Select ENSP00000315602.5:p.Leu242CysfsTer?
ENST00000326828.5:c.725del ENSP00000315602.5:p.Leu242CysfsTer?
ENST00000348639.7:c.725del ENSP00000267951.4:p.Leu242CysfsTer?
ENST00000558903.1:n.432del
ENST00000559658.5:c.725del ENSP00000452896.1:p.Leu242CysfsTer?
NM_000743.4:c.725del NP_000734.2:p.Leu242CysfsTer?
NM_001166694.1:c.725del NP_001160166.1:p.Leu242CysfsTer?
NR_046313.1:n.1226del
XM_006720382.1:c.524del XP_006720445.1:p.Leu175CysfsTer?
XM_011521173.1:c.644del XP_011519475.1:p.Leu215CysfsTer?
XM_006720382.3:c.524del XP_006720445.1:p.Leu175CysfsTer?
NM_000743.5:c.725del MANE Select NP_000734.2:p.Leu242CysfsTer?
NM_001166694.2:c.725del NP_001160166.1:p.Leu242CysfsTer?
NR_046313.2:n.927del