Canonical Allele Identifier: CA7684405

Gene: CHRNA3

Linked Data

• dbSNP Id: rs761136255
• ExAC: 15:78894241 A / AG
• gnomAD v2: 15-78894241-A-AG
• gnomAD v3: 15-78601899-A-AG
• gnomAD v4: 15-78601899-A-AG
• MyVariant Identifiers: chr15:g.78894241_78894242insG (hg19) ; chr15:g.78601899_78601900insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601901dup , CM000677.2:g.78601901dup	GRCh38
NC_000015.9:g.78894243dup , CM000677.1:g.78894243dup	GRCh37
NC_000015.8:g.76681298dup	NCBI36
NG_016143.1:g.24396dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000326828.6:c.742dup MANE Select	ENSP00000315602.5:p.Leu248ProfsTer24
ENST00000326828.5:c.742dup	ENSP00000315602.5:p.Leu248ProfsTer24
ENST00000348639.7:c.742dup	ENSP00000267951.4:p.Leu248ProfsTer24
ENST00000558903.1:n.449dup
ENST00000559658.5:c.742dup	ENSP00000452896.1:p.Leu248ProfsTer24
NM_000743.4:c.742dup	NP_000734.2:p.Leu248ProfsTer24
NM_001166694.1:c.742dup	NP_001160166.1:p.Leu248ProfsTer24
NR_046313.1:n.1243dup
XM_006720382.1:c.541dup	XP_006720445.1:p.Leu181ProfsTer24
XM_011521173.1:c.661dup	XP_011519475.1:p.Leu221ProfsTer24
XM_006720382.3:c.541dup	XP_006720445.1:p.Leu181ProfsTer24
NM_000743.5:c.742dup MANE Select	NP_000734.2:p.Leu248ProfsTer24
NM_001166694.2:c.742dup	NP_001160166.1:p.Leu248ProfsTer24
NR_046313.2:n.944dup