Canonical Allele Identifier: CA409637228

Gene: CHRNA4

Linked Data

• dbSNP Id: rs1601476507
• gnomAD v3: 20-63350741-C-T
• gnomAD v4: 20-63350741-C-T
• COSMIC: COSM5902118
• MyVariant Identifiers: chr20:g.61982093C>T (hg19) ; chr20:g.63350741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350741C>T , CM000682.2:g.63350741C>T	GRCh38
NC_000020.10:g.61982093C>T , CM000682.1:g.61982093C>T	GRCh37
NC_000020.9:g.61452537C>T	NCBI36
NG_011931.1:g.15603G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.670G>A MANE Select	ENSP00000359285.4:p.Glu224Lys
ENST00000370263.8:c.670G>A	ENSP00000359285.4:p.Glu224Lys
ENST00000463705.5:n.1318G>A
ENST00000467563.3:n.740G>A
ENST00000498043.6:c.694G>A
ENST00000615287.4:c.457G>A	ENSP00000483388.1:p.Glu153Lys
ENST00000627000.1:c.*359G>A	ENSP00000486914.1:n.*359G>A
ENST00000630240.1:n.391G>A
NM_000744.6:c.670G>A	NP_000735.1:p.Glu224Lys
NM_001256573.1:c.142G>A	NP_001243502.1:p.Glu48Lys
NR_046317.1:n.926G>A
XM_011528524.1:c.457G>A	XP_011526826.1:p.Glu153Lys
XM_017027625.2:c.142G>A	XP_016883114.1:p.Glu48Lys
XM_024451822.1:c.142G>A	XP_024307590.1:p.Glu48Lys
NM_001256573.2:c.142G>A	NP_001243502.1:p.Glu48Lys
NR_046317.2:n.879G>A
NM_000744.7:c.670G>A MANE Select	NP_000735.1:p.Glu224Lys