Canonical Allele Identifier: CA619417543

Gene: CHRNA3

Linked Data

• dbSNP Id: rs1226938545
• gnomAD v2: 15-78894234-G-GA
• gnomAD v4: 15-78601892-G-GA
• MyVariant Identifiers: chr15:g.78894234_78894235insA (hg19) ; chr15:g.78601892_78601893insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601893dup , CM000677.2:g.78601893dup	GRCh38
NC_000015.9:g.78894235dup , CM000677.1:g.78894235dup	GRCh37
NC_000015.8:g.76681290dup	NCBI36
NG_016143.1:g.24403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.749dup MANE Select	ENSP00000315602.5:p.Cys252LeufsTer20
ENST00000326828.5:c.749dup	ENSP00000315602.5:p.Cys252LeufsTer20
ENST00000348639.7:c.749dup	ENSP00000267951.4:p.Cys252LeufsTer20
ENST00000558903.1:n.456dup
ENST00000559658.5:c.749dup	ENSP00000452896.1:p.Cys252LeufsTer20
NM_000743.4:c.749dup	NP_000734.2:p.Cys252LeufsTer20
NM_001166694.1:c.749dup	NP_001160166.1:p.Cys252LeufsTer20
NR_046313.1:n.1250dup
XM_006720382.1:c.548dup	XP_006720445.1:p.Cys185LeufsTer20
XM_011521173.1:c.668dup	XP_011519475.1:p.Cys225LeufsTer20
XM_006720382.3:c.548dup	XP_006720445.1:p.Cys185LeufsTer20
NM_000743.5:c.749dup MANE Select	NP_000734.2:p.Cys252LeufsTer20
NM_001166694.2:c.749dup	NP_001160166.1:p.Cys252LeufsTer20
NR_046313.2:n.951dup