Canonical Allele Identifier: CA2816988864
Gene: CHRNA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350736_63350740del , CM000682.2:g.63350736_63350740del GRCh38
NC_000020.10:g.61982088_61982092del , CM000682.1:g.61982088_61982092del GRCh37
NC_000020.9:g.61452532_61452536del NCBI36
NG_011931.1:g.15604_15608del

Transcript Alleles

HGVS Amino-acid change
ENST00000370263.9:c.671_675del MANE Select ENSP00000359285.4:p.Glu224ValfsTer?
ENST00000370263.8:c.671_675del ENSP00000359285.4:p.Glu224ValfsTer?
ENST00000463705.5:n.1319_1323del
ENST00000467563.3:n.741_745del
ENST00000498043.6:c.695_699del
ENST00000615287.4:c.458_462del ENSP00000483388.1:p.Glu153ValfsTer?
ENST00000627000.1:c.*360_*364del ENSP00000486914.1:n.*360_*364del
ENST00000630240.1:n.392_396del
NM_000744.6:c.671_675del NP_000735.1:p.Glu224ValfsTer?
NM_001256573.1:c.143_147del NP_001243502.1:p.Glu48ValfsTer?
NR_046317.1:n.927_931del
XM_011528524.1:c.458_462del XP_011526826.1:p.Glu153ValfsTer?
XM_017027625.2:c.143_147del XP_016883114.1:p.Glu48ValfsTer?
XM_024451822.1:c.143_147del XP_024307590.1:p.Glu48ValfsTer?
NM_001256573.2:c.143_147del NP_001243502.1:p.Glu48ValfsTer?
NR_046317.2:n.880_884del
NM_000744.7:c.671_675del MANE Select NP_000735.1:p.Glu224ValfsTer?