Canonical Allele Identifier: CA971778855

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs2053070973
• gnomAD v3: 15-78594658-CAA-C
• gnomAD v4: 15-78594658-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594659_78594660del , CM000677.2:g.78594659_78594660del	GRCh38
NC_000015.9:g.78887001_78887002del , CM000677.1:g.78887001_78887002del	GRCh37
NC_000015.8:g.76674056_76674057del	NCBI36
NG_016143.1:g.31636_31637del
NG_023328.1:g.34140_34141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1406_*1407del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1406_*1407del
ENST00000348639.7:c.1390-1469_1390-1468del (CHRNA3)	ENSP00000267951.4:n.1390-1469_1390-1468del
ENST00000559002.5:n.194-1469_194-1468del (CHRNA3)
ENST00000559658.5:c.*65-649_*65-648del (CHRNA3)	ENSP00000452896.1:n.*65-649_*65-648del
NM_000745.3:c.*1406_*1407del (CHRNA5)	NP_000736.2:n.*1406_*1407del
NM_001166694.1:c.1390-1469_1390-1468del (CHRNA3)	NP_001160166.1:n.1390-1469_1390-1468del
NM_001307945.1:c.*1543_*1544del (CHRNA5)	NP_001294874.1:n.*1543_*1544del
NR_046313.1:n.2084-649_2084-648del (CHRNA3)
NM_001166694.2:c.1390-1469_1390-1468del (CHRNA3)	NP_001160166.1:n.1390-1469_1390-1468del
NM_001307945.2:c.*1543_*1544del (CHRNA5)	NP_001294874.1:n.*1543_*1544del
NR_046313.2:n.1785-649_1785-648del (CHRNA3)
NM_000745.4:c.*1406_*1407del (CHRNA5) MANE Select	NP_000736.2:n.*1406_*1407del
NM_001395171.1:c.*1543_*1544del (CHRNA5)	NP_001382100.1:n.*1543_*1544del
NM_001395172.1:c.*1406_*1407del (CHRNA5)	NP_001382101.1:n.*1406_*1407del
NM_001395173.1:c.*1543_*1544del (CHRNA5)	NP_001382102.1:n.*1543_*1544del
NM_001395174.1:c.*1543_*1544del (CHRNA5)	NP_001382103.1:n.*1543_*1544del
NM_001395175.1:c.*1543_*1544del (CHRNA5)	NP_001382104.1:n.*1543_*1544del