Canonical Allele Identifier: CA2189590020

Gene: CHRNA3

Linked Data

• dbSNP Id: rs2053206485
• gnomAD v4: 15-78601868-G-GAGGAAGGAGATGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601872_78601886dup , CM000677.2:g.78601872_78601886dup	GRCh38
NC_000015.9:g.78894214_78894228dup , CM000677.1:g.78894214_78894228dup	GRCh37
NC_000015.8:g.76681269_76681283dup	NCBI36
NG_016143.1:g.24413_24427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.759_773dup MANE Select	ENSP00000315602.5:p.Leu258_Thr259insLeuIleSerPheLeu
ENST00000326828.5:c.759_773dup	ENSP00000315602.5:p.Leu258_Thr259insLeuIleSerPheLeu
ENST00000348639.7:c.759_773dup	ENSP00000267951.4:p.Leu258_Thr259insLeuIleSerPheLeu
ENST00000558903.1:n.466_480dup
ENST00000559658.5:c.759_773dup	ENSP00000452896.1:p.Leu258_Thr259insLeuIleSerPheLeu
NM_000743.4:c.759_773dup	NP_000734.2:p.Leu258_Thr259insLeuIleSerPheLeu
NM_001166694.1:c.759_773dup	NP_001160166.1:p.Leu258_Thr259insLeuIleSerPheLeu
NR_046313.1:n.1260_1274dup
XM_006720382.1:c.558_572dup	XP_006720445.1:p.Leu191_Thr192insLeuIleSerPheLeu
XM_011521173.1:c.678_692dup	XP_011519475.1:p.Leu231_Thr232insLeuIleSerPheLeu
XM_006720382.3:c.558_572dup	XP_006720445.1:p.Leu191_Thr192insLeuIleSerPheLeu
NM_000743.5:c.759_773dup MANE Select	NP_000734.2:p.Leu258_Thr259insLeuIleSerPheLeu
NM_001166694.2:c.759_773dup	NP_001160166.1:p.Leu258_Thr259insLeuIleSerPheLeu
NR_046313.2:n.961_975dup