Canonical Allele Identifier: CA2189590001
Gene: CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs2053206314

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601864_78601865del , CM000677.2:g.78601864_78601865del GRCh38
NC_000015.9:g.78894206_78894207del , CM000677.1:g.78894206_78894207del GRCh37
NC_000015.8:g.76681261_76681262del NCBI36
NG_016143.1:g.24433_24434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.779_780del MANE Select ENSP00000315602.5:p.Val260AlafsTer11
ENST00000326828.5:c.779_780del ENSP00000315602.5:p.Val260AlafsTer11
ENST00000348639.7:c.779_780del ENSP00000267951.4:p.Val260AlafsTer11
ENST00000558903.1:n.486_487del
ENST00000559658.5:c.779_780del ENSP00000452896.1:p.Val260AlafsTer11
NM_000743.4:c.779_780del NP_000734.2:p.Val260AlafsTer11
NM_001166694.1:c.779_780del NP_001160166.1:p.Val260AlafsTer11
NR_046313.1:n.1280_1281del
XM_006720382.1:c.578_579del XP_006720445.1:p.Val193AlafsTer11
XM_011521173.1:c.698_699del XP_011519475.1:p.Val233AlafsTer11
XM_006720382.3:c.578_579del XP_006720445.1:p.Val193AlafsTer11
NM_000743.5:c.779_780del MANE Select NP_000734.2:p.Val260AlafsTer11
NM_001166694.2:c.779_780del NP_001160166.1:p.Val260AlafsTer11
NR_046313.2:n.981_982del