Canonical Allele Identifier: CA2653789190

Gene: CHRNA4

Linked Data

• gnomAD v4: 20-63349781-CGCTCGGGGACACCGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349782_63349798del , CM000682.2:g.63349782_63349798del	GRCh38
NC_000020.10:g.61981134_61981150del , CM000682.1:g.61981134_61981150del	GRCh37
NC_000020.9:g.61451578_61451594del	NCBI36
NG_011931.1:g.16546_16562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1613_1629del MANE Select	ENSP00000359285.4:p.Ser538CysfsTer?
ENST00000370263.8:c.1613_1629del	ENSP00000359285.4:p.Ser538CysfsTer?
ENST00000463705.5:n.2261_2277del
ENST00000467563.3:n.1683_1699del
ENST00000498043.6:c.1637_1653del
ENST00000615287.4:c.1400_1416del	ENSP00000483388.1:p.Ser467CysfsTer?
ENST00000627000.1:c.*1302_*1318del	ENSP00000486914.1:n.*1302_*1318del
ENST00000630240.1:n.1334_1350del
NM_000744.6:c.1613_1629del	NP_000735.1:p.Ser538CysfsTer?
NM_001256573.1:c.1085_1101del	NP_001243502.1:p.Ser362CysfsTer?
NR_046317.1:n.1869_1885del
XM_011528524.1:c.1400_1416del	XP_011526826.1:p.Ser467CysfsTer?
XM_017027625.2:c.1085_1101del	XP_016883114.1:p.Ser362CysfsTer?
XM_024451822.1:c.1085_1101del	XP_024307590.1:p.Ser362CysfsTer?
NM_001256573.2:c.1085_1101del	NP_001243502.1:p.Ser362CysfsTer?
NR_046317.2:n.1822_1838del
NM_000744.7:c.1613_1629del MANE Select	NP_000735.1:p.Ser538CysfsTer?