Canonical Allele Identifier: CA9957697

Gene: CHRNA4

Linked Data

• dbSNP Id: rs770462797
• ExAC: 20:61981807 A / AG
• gnomAD v2: 20-61981807-A-AG
• MyVariant Identifiers: chr20:g.61981807_61981808insG (hg19) ; chr20:g.63350455_63350456insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350458dup , CM000682.2:g.63350458dup	GRCh38
NC_000020.10:g.61981810dup , CM000682.1:g.61981810dup	GRCh37
NC_000020.9:g.61452254dup	NCBI36
NG_011931.1:g.15888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.955dup MANE Select	ENSP00000359285.4:p.Leu319ProfsTer?
ENST00000370263.8:c.955dup	ENSP00000359285.4:p.Leu319ProfsTer?
ENST00000463705.5:n.1603dup
ENST00000467563.3:n.1025dup
ENST00000498043.6:c.979dup
ENST00000615287.4:c.742dup	ENSP00000483388.1:p.Leu248ProfsTer?
ENST00000627000.1:c.*644dup	ENSP00000486914.1:n.*644dup
ENST00000630240.1:n.676dup
NM_000744.6:c.955dup	NP_000735.1:p.Leu319ProfsTer?
NM_001256573.1:c.427dup	NP_001243502.1:p.Leu143ProfsTer?
NR_046317.1:n.1211dup
XM_011528524.1:c.742dup	XP_011526826.1:p.Leu248ProfsTer?
XM_017027625.2:c.427dup	XP_016883114.1:p.Leu143ProfsTer?
XM_024451822.1:c.427dup	XP_024307590.1:p.Leu143ProfsTer?
NM_001256573.2:c.427dup	NP_001243502.1:p.Leu143ProfsTer?
NR_046317.2:n.1164dup
NM_000744.7:c.955dup MANE Select	NP_000735.1:p.Leu319ProfsTer?