Canonical Allele Identifier: CA619417546

Gene: CHRNA3

Linked Data

• dbSNP Id: rs1237791583
• gnomAD v2: 15-78894322-T-TA
• gnomAD v3: 15-78601980-T-TA
• gnomAD v4: 15-78601980-T-TA
• MyVariant Identifiers: chr15:g.78894322_78894323insA (hg19) ; chr15:g.78601980_78601981insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601981dup , CM000677.2:g.78601981dup	GRCh38
NC_000015.9:g.78894323dup , CM000677.1:g.78894323dup	GRCh37
NC_000015.8:g.76681378dup	NCBI36
NG_016143.1:g.24315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.661dup MANE Select	ENSP00000315602.5:p.Tyr221LeufsTer?
ENST00000326828.5:c.661dup	ENSP00000315602.5:p.Tyr221LeufsTer?
ENST00000348639.7:c.661dup	ENSP00000267951.4:p.Tyr221LeufsTer?
ENST00000558903.1:n.368dup
ENST00000559658.5:c.661dup	ENSP00000452896.1:p.Tyr221LeufsTer?
NM_000743.4:c.661dup	NP_000734.2:p.Tyr221LeufsTer?
NM_001166694.1:c.661dup	NP_001160166.1:p.Tyr221LeufsTer?
NR_046313.1:n.1162dup
XM_006720382.1:c.460dup	XP_006720445.1:p.Tyr154LeufsTer?
XM_011521173.1:c.580dup	XP_011519475.1:p.Tyr194LeufsTer?
XM_006720382.3:c.460dup	XP_006720445.1:p.Tyr154LeufsTer?
NM_000743.5:c.661dup MANE Select	NP_000734.2:p.Tyr221LeufsTer?
NM_001166694.2:c.661dup	NP_001160166.1:p.Tyr221LeufsTer?
NR_046313.2:n.863dup