Canonical Allele Identifier: CA619234665
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs1214817064

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593677_78593678insGCAGT , CM000677.2:g.78593677_78593678insGCAGT GRCh38
NC_000015.9:g.78886019_78886020insGCAGT , CM000677.1:g.78886019_78886020insGCAGT GRCh37
NC_000015.8:g.76673074_76673075insGCAGT NCBI36
NG_016143.1:g.32618_32619insACTGC
NG_023328.1:g.33158_33159insGCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*424_*425insGCAGT (CHRNA5) MANE Select ENSP00000299565.5:n.*424_*425insGCAGT
ENST00000348639.7:c.1390-487_1390-486insACTGC (CHRNA3) ENSP00000267951.4:n.1390-487_1390-486insACTGC
ENST00000559002.5:n.194-487_194-486insACTGC (CHRNA3)
ENST00000559576.1:c.731_732insGCAGT (CHRNA5)
ENST00000559658.5:c.*162+236_*162+237insACTGC (CHRNA3) ENSP00000452896.1:n.*162+236_*162+237insACTGC
NM_000745.3:c.*424_*425insGCAGT (CHRNA5) NP_000736.2:n.*424_*425insGCAGT
NM_001166694.1:c.1390-487_1390-486insACTGC (CHRNA3) NP_001160166.1:n.1390-487_1390-486insACTGC
NM_001307945.1:c.*561_*562insGCAGT (CHRNA5) NP_001294874.1:n.*561_*562insGCAGT
NR_046313.1:n.2181+236_2181+237insACTGC (CHRNA3)
NM_001166694.2:c.1390-487_1390-486insACTGC (CHRNA3) NP_001160166.1:n.1390-487_1390-486insACTGC
NM_001307945.2:c.*561_*562insGCAGT (CHRNA5) NP_001294874.1:n.*561_*562insGCAGT
NR_046313.2:n.1882+236_1882+237insACTGC (CHRNA3)
NM_000745.4:c.*424_*425insGCAGT (CHRNA5) MANE Select NP_000736.2:n.*424_*425insGCAGT
NM_001395171.1:c.*561_*562insGCAGT (CHRNA5) NP_001382100.1:n.*561_*562insGCAGT
NM_001395172.1:c.*424_*425insGCAGT (CHRNA5) NP_001382101.1:n.*424_*425insGCAGT
NM_001395173.1:c.*561_*562insGCAGT (CHRNA5) NP_001382102.1:n.*561_*562insGCAGT
NM_001395174.1:c.*561_*562insGCAGT (CHRNA5) NP_001382103.1:n.*561_*562insGCAGT
NM_001395175.1:c.*561_*562insGCAGT (CHRNA5) NP_001382104.1:n.*561_*562insGCAGT