Canonical Allele Identifier: CA2573054900

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1305759
• ClinVar RCV Id: RCV001768966
• dbSNP Id: rs2123469840

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349752_63349753delinsTA , CM000682.2:g.63349752_63349753delinsTA	GRCh38
NC_000020.10:g.61981104_61981105delinsTA , CM000682.1:g.61981104_61981105delinsTA	GRCh37
NC_000020.9:g.61451548_61451549delinsTA	NCBI36
NG_011931.1:g.16591_16592delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.1658_1659delinsTA MANE Select	ENSP00000359285.4:p.Ala553Val
ENST00000370263.8:c.1658_1659delinsTA	ENSP00000359285.4:p.Ala553Val
ENST00000463705.5:n.2306_2307delinsTA
ENST00000467563.3:n.1728_1729delinsTA
ENST00000498043.6:c.1682_1683delinsTA
ENST00000615287.4:c.1445_1446delinsTA	ENSP00000483388.1:p.Ala482Val
ENST00000627000.1:c.*1347_*1348delinsTA	ENSP00000486914.1:n.*1347_*1348delinsTA
ENST00000630240.1:n.1379_1380delinsTA
NM_000744.6:c.1658_1659delinsTA	NP_000735.1:p.Ala553Val
NM_001256573.1:c.1130_1131delinsTA	NP_001243502.1:p.Ala377Val
NR_046317.1:n.1914_1915delinsTA
XM_011528524.1:c.1445_1446delinsTA	XP_011526826.1:p.Ala482Val
XM_017027625.2:c.1130_1131delinsTA	XP_016883114.1:p.Ala377Val
XM_024451822.1:c.1130_1131delinsTA	XP_024307590.1:p.Ala377Val
NM_001256573.2:c.1130_1131delinsTA	NP_001243502.1:p.Ala377Val
NR_046317.2:n.1867_1868delinsTA
NM_000744.7:c.1658_1659delinsTA MANE Select	NP_000735.1:p.Ala553Val