Canonical Allele Identifier: CA313528

Gene: CHRNA4

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349766G>A , CM000682.2:g.63349766G>A	GRCh38
NC_000020.10:g.61981118G>A , CM000682.1:g.61981118G>A	GRCh37
NC_000020.9:g.61451562G>A	NCBI36
NG_011931.1:g.16578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1645C>T MANE Select	ENSP00000359285.4:p.Arg549Cys
ENST00000370263.8:c.1645C>T	ENSP00000359285.4:p.Arg549Cys
ENST00000463705.5:n.2293C>T
ENST00000467563.3:n.1715C>T
ENST00000498043.6:c.1669C>T
ENST00000615287.4:c.1432C>T	ENSP00000483388.1:p.Arg478Cys
ENST00000627000.1:c.*1334C>T	ENSP00000486914.1:n.*1334C>T
ENST00000630240.1:n.1366C>T
NM_000744.6:c.1645C>T	NP_000735.1:p.Arg549Cys
NM_001256573.1:c.1117C>T	NP_001243502.1:p.Arg373Cys
NR_046317.1:n.1901C>T
XM_011528524.1:c.1432C>T	XP_011526826.1:p.Arg478Cys
XM_017027625.2:c.1117C>T	XP_016883114.1:p.Arg373Cys
XM_024451822.1:c.1117C>T	XP_024307590.1:p.Arg373Cys
NM_001256573.2:c.1117C>T	NP_001243502.1:p.Arg373Cys
NR_046317.2:n.1854C>T
NM_000744.7:c.1645C>T MANE Select	NP_000735.1:p.Arg549Cys