Canonical Allele Identifier: CA746456776

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1512694
• ClinVar RCV Id: RCV002023167
• dbSNP Id: rs1250589502
• MyVariant Identifiers: chr20:g.61982256del (hg19) ; chr20:g.63350904del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350907del , CM000682.2:g.63350907del	GRCh38
NC_000020.10:g.61982259del , CM000682.1:g.61982259del	GRCh37
NC_000020.9:g.61452703del	NCBI36
NG_011931.1:g.15440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.507del MANE Select	ENSP00000359285.4:p.Phe170SerfsTer8
ENST00000370263.8:c.507del	ENSP00000359285.4:p.Phe170SerfsTer8
ENST00000463705.5:n.1155del
ENST00000467563.3:n.577del
ENST00000498043.6:c.531del
ENST00000615287.4:c.294del	ENSP00000483388.1:p.Phe99SerfsTer8
ENST00000627000.1:c.*196del	ENSP00000486914.1:n.*196del
ENST00000630240.1:n.228del
NM_000744.6:c.507del	NP_000735.1:p.Phe170SerfsTer8
NM_001256573.1:c.-22del	NP_001243502.1:n.-22del
NR_046317.1:n.763del
XM_011528524.1:c.294del	XP_011526826.1:p.Phe99SerfsTer8
XM_017027625.2:c.-22del	XP_016883114.1:n.-22del
XM_024451822.1:c.-22del	XP_024307590.1:n.-22del
NM_001256573.2:c.-22del	NP_001243502.1:n.-22del
NR_046317.2:n.716del
NM_000744.7:c.507del MANE Select	NP_000735.1:p.Phe170SerfsTer8