Canonical Allele Identifier: CA2189590811
Gene: CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs2053214381

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78602148del , CM000677.2:g.78602148del GRCh38
NC_000015.9:g.78894490del , CM000677.1:g.78894490del GRCh37
NC_000015.8:g.76681545del NCBI36
NG_016143.1:g.24148del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.494del MANE Select ENSP00000315602.5:p.Tyr165SerfsTer11
ENST00000326828.5:c.494del ENSP00000315602.5:p.Tyr165SerfsTer11
ENST00000348639.7:c.494del ENSP00000267951.4:p.Tyr165SerfsTer11
ENST00000558903.1:n.201del
ENST00000559658.5:c.494del ENSP00000452896.1:p.Tyr165SerfsTer11
NM_000743.4:c.494del NP_000734.2:p.Tyr165SerfsTer11
NM_001166694.1:c.494del NP_001160166.1:p.Tyr165SerfsTer11
NR_046313.1:n.995del
XM_006720382.1:c.293del XP_006720445.1:p.Tyr98SerfsTer11
XM_011521173.1:c.413del XP_011519475.1:p.Tyr138SerfsTer11
XM_006720382.3:c.293del XP_006720445.1:p.Tyr98SerfsTer11
NM_000743.5:c.494del MANE Select NP_000734.2:p.Tyr165SerfsTer11
NM_001166694.2:c.494del NP_001160166.1:p.Tyr165SerfsTer11
NR_046313.2:n.696del