Canonical Allele Identifier: CA2189597968

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs2053071144
• gnomAD v3: 15-78594668-ACT-A
• gnomAD v4: 15-78594668-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594671_78594672del , CM000677.2:g.78594671_78594672del	GRCh38
NC_000015.9:g.78887013_78887014del , CM000677.1:g.78887013_78887014del	GRCh37
NC_000015.8:g.76674068_76674069del	NCBI36
NG_016143.1:g.31626_31627del
NG_023328.1:g.34152_34153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1418_*1419del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1418_*1419del
ENST00000348639.7:c.1390-1479_1390-1478del (CHRNA3)	ENSP00000267951.4:n.1390-1479_1390-1478del
ENST00000559002.5:n.194-1479_194-1478del (CHRNA3)
ENST00000559658.5:c.*65-659_*65-658del (CHRNA3)	ENSP00000452896.1:n.*65-659_*65-658del
NM_000745.3:c.*1418_*1419del (CHRNA5)	NP_000736.2:n.*1418_*1419del
NM_001166694.1:c.1390-1479_1390-1478del (CHRNA3)	NP_001160166.1:n.1390-1479_1390-1478del
NM_001307945.1:c.*1555_*1556del (CHRNA5)	NP_001294874.1:n.*1555_*1556del
NR_046313.1:n.2084-659_2084-658del (CHRNA3)
NM_001166694.2:c.1390-1479_1390-1478del (CHRNA3)	NP_001160166.1:n.1390-1479_1390-1478del
NM_001307945.2:c.*1555_*1556del (CHRNA5)	NP_001294874.1:n.*1555_*1556del
NR_046313.2:n.1785-659_1785-658del (CHRNA3)
NM_000745.4:c.*1418_*1419del (CHRNA5) MANE Select	NP_000736.2:n.*1418_*1419del
NM_001395171.1:c.*1555_*1556del (CHRNA5)	NP_001382100.1:n.*1555_*1556del
NM_001395172.1:c.*1418_*1419del (CHRNA5)	NP_001382101.1:n.*1418_*1419del
NM_001395173.1:c.*1555_*1556del (CHRNA5)	NP_001382102.1:n.*1555_*1556del
NM_001395174.1:c.*1555_*1556del (CHRNA5)	NP_001382103.1:n.*1555_*1556del
NM_001395175.1:c.*1555_*1556del (CHRNA5)	NP_001382104.1:n.*1555_*1556del