Canonical Allele Identifier: CA313553
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 205018
dbSNP Id: rs771249249

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350789C>T , CM000682.2:g.63350789C>T GRCh38
NC_000020.10:g.61982141C>T , CM000682.1:g.61982141C>T GRCh37
NC_000020.9:g.61452585C>T NCBI36
NG_011931.1:g.15555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.622G>A MANE Select ENSP00000359285.4:p.Glu208Lys
ENST00000370263.8:c.622G>A ENSP00000359285.4:p.Glu208Lys
ENST00000463705.5:n.1270G>A
ENST00000467563.3:n.692G>A
ENST00000498043.6:c.646G>A
ENST00000615287.4:c.409G>A ENSP00000483388.1:p.Glu137Lys
ENST00000627000.1:c.*311G>A ENSP00000486914.1:n.*311G>A
ENST00000630240.1:n.343G>A
NM_000744.6:c.622G>A NP_000735.1:p.Glu208Lys
NM_001256573.1:c.94G>A NP_001243502.1:p.Glu32Lys
NR_046317.1:n.878G>A
XM_011528524.1:c.409G>A XP_011526826.1:p.Glu137Lys
XM_017027625.2:c.94G>A XP_016883114.1:p.Glu32Lys
XM_024451822.1:c.94G>A XP_024307590.1:p.Glu32Lys
NM_001256573.2:c.94G>A NP_001243502.1:p.Glu32Lys
NR_046317.2:n.831G>A
NM_000744.7:c.622G>A MANE Select NP_000735.1:p.Glu208Lys