Canonical Allele Identifier: CA409635511

Gene: CHRNA4

Linked Data

• gnomAD v4: 20-63350384-A-T
• COSMIC: COSM3389902
• MyVariant Identifiers: chr20:g.61981736A>T (hg19) ; chr20:g.63350384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350384A>T , CM000682.2:g.63350384A>T	GRCh38
NC_000020.10:g.61981736A>T , CM000682.1:g.61981736A>T	GRCh37
NC_000020.9:g.61452180A>T	NCBI36
NG_011931.1:g.15960T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1027T>A MANE Select	ENSP00000359285.4:p.Trp343Arg
ENST00000370263.8:c.1027T>A	ENSP00000359285.4:p.Trp343Arg
ENST00000463705.5:n.1675T>A
ENST00000467563.3:n.1097T>A
ENST00000498043.6:c.1051T>A
ENST00000615287.4:c.814T>A	ENSP00000483388.1:p.Trp272Arg
ENST00000627000.1:c.*716T>A	ENSP00000486914.1:n.*716T>A
ENST00000630240.1:n.748T>A
NM_000744.6:c.1027T>A	NP_000735.1:p.Trp343Arg
NM_001256573.1:c.499T>A	NP_001243502.1:p.Trp167Arg
NR_046317.1:n.1283T>A
XM_011528524.1:c.814T>A	XP_011526826.1:p.Trp272Arg
XM_017027625.2:c.499T>A	XP_016883114.1:p.Trp167Arg
XM_024451822.1:c.499T>A	XP_024307590.1:p.Trp167Arg
NM_001256573.2:c.499T>A	NP_001243502.1:p.Trp167Arg
NR_046317.2:n.1236T>A
NM_000744.7:c.1027T>A MANE Select	NP_000735.1:p.Trp343Arg