Canonical Allele Identifier: CA511204223

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1437085
• ClinVar RCV Id: RCV001962746
• dbSNP Id: rs1231314909
• gnomAD v2: 20-61981083-CAG-C
• gnomAD v4: 20-63349731-CAG-C
• MyVariant Identifiers: chr20:g.61981084_61981085del (hg19) ; chr20:g.63349732_63349733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349732_63349733del , CM000682.2:g.63349732_63349733del	GRCh38
NC_000020.10:g.61981084_61981085del , CM000682.1:g.61981084_61981085del	GRCh37
NC_000020.9:g.61451528_61451529del	NCBI36
NG_011931.1:g.16611_16612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1678_1679del MANE Select	ENSP00000359285.4:p.Leu560ValfsTer?
ENST00000370263.8:c.1678_1679del	ENSP00000359285.4:p.Leu560ValfsTer?
ENST00000463705.5:n.2326_2327del
ENST00000467563.3:n.1748_1749del
ENST00000498043.6:c.1702_1703del
ENST00000615287.4:c.1465_1466del	ENSP00000483388.1:p.Leu489ValfsTer?
ENST00000627000.1:c.*1367_*1368del	ENSP00000486914.1:n.*1367_*1368del
ENST00000630240.1:n.1399_1400del
NM_000744.6:c.1678_1679del	NP_000735.1:p.Leu560ValfsTer?
NM_001256573.1:c.1150_1151del	NP_001243502.1:p.Leu384ValfsTer?
NR_046317.1:n.1934_1935del
XM_011528524.1:c.1465_1466del	XP_011526826.1:p.Leu489ValfsTer?
XM_017027625.2:c.1150_1151del	XP_016883114.1:p.Leu384ValfsTer?
XM_024451822.1:c.1150_1151del	XP_024307590.1:p.Leu384ValfsTer?
NM_001256573.2:c.1150_1151del	NP_001243502.1:p.Leu384ValfsTer?
NR_046317.2:n.1887_1888del
NM_000744.7:c.1678_1679del MANE Select	NP_000735.1:p.Leu560ValfsTer?