Canonical Allele Identifier: CA971778930

Gene: CHRNA5 CHRNA3

Linked Data

• dbSNP Id: rs2053075120
• gnomAD v3: 15-78594887-TTAGTACAGTA-T
• gnomAD v4: 15-78594887-TTAGTACAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78594890_78594899del , CM000677.2:g.78594890_78594899del	GRCh38
NC_000015.9:g.78887232_78887241del , CM000677.1:g.78887232_78887241del	GRCh37
NC_000015.8:g.76674287_76674296del	NCBI36
NG_016143.1:g.31399_31408del
NG_023328.1:g.34371_34380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.*1637_*1646del (CHRNA5) MANE Select	ENSP00000299565.5:n.*1637_*1646del
ENST00000348639.7:c.1390-1706_1390-1697del (CHRNA3)	ENSP00000267951.4:n.1390-1706_1390-1697del
ENST00000559002.5:n.193+1643_193+1652del (CHRNA3)
ENST00000559658.5:c.*65-886_*65-877del (CHRNA3)	ENSP00000452896.1:n.*65-886_*65-877del
NM_000745.3:c.*1637_*1646del (CHRNA5)	NP_000736.2:n.*1637_*1646del
NM_001166694.1:c.1390-1706_1390-1697del (CHRNA3)	NP_001160166.1:n.1390-1706_1390-1697del
NM_001307945.1:c.*1774_*1783del (CHRNA5)	NP_001294874.1:n.*1774_*1783del
NR_046313.1:n.2084-886_2084-877del (CHRNA3)
NM_001166694.2:c.1390-1706_1390-1697del (CHRNA3)	NP_001160166.1:n.1390-1706_1390-1697del
NM_001307945.2:c.*1774_*1783del (CHRNA5)	NP_001294874.1:n.*1774_*1783del
NR_046313.2:n.1785-886_1785-877del (CHRNA3)
NM_000745.4:c.*1637_*1646del (CHRNA5) MANE Select	NP_000736.2:n.*1637_*1646del
NM_001395171.1:c.*1774_*1783del (CHRNA5)	NP_001382100.1:n.*1774_*1783del
NM_001395172.1:c.*1637_*1646del (CHRNA5)	NP_001382101.1:n.*1637_*1646del
NM_001395173.1:c.*1774_*1783del (CHRNA5)	NP_001382102.1:n.*1774_*1783del
NM_001395174.1:c.*1774_*1783del (CHRNA5)	NP_001382103.1:n.*1774_*1783del
NM_001395175.1:c.*1774_*1783del (CHRNA5)	NP_001382104.1:n.*1774_*1783del