Canonical Allele Identifier: CA409636109

Gene: CHRNA4

Linked Data

• MyVariant Identifiers: chr20:g.61981831A>T (hg19) ; chr20:g.63350479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350479A>T , CM000682.2:g.63350479A>T	GRCh38
NC_000020.10:g.61981831A>T , CM000682.1:g.61981831A>T	GRCh37
NC_000020.9:g.61452275A>T	NCBI36
NG_011931.1:g.15865T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.932T>A MANE Select	ENSP00000359285.4:p.Leu311Gln
ENST00000370263.8:c.932T>A	ENSP00000359285.4:p.Leu311Gln
ENST00000463705.5:n.1580T>A
ENST00000467563.3:n.1002T>A
ENST00000498043.6:c.956T>A
ENST00000615287.4:c.719T>A	ENSP00000483388.1:p.Leu240Gln
ENST00000627000.1:c.*621T>A	ENSP00000486914.1:n.*621T>A
ENST00000630240.1:n.653T>A
NM_000744.6:c.932T>A	NP_000735.1:p.Leu311Gln
NM_001256573.1:c.404T>A	NP_001243502.1:p.Leu135Gln
NR_046317.1:n.1188T>A
XM_011528524.1:c.719T>A	XP_011526826.1:p.Leu240Gln
XM_017027625.2:c.404T>A	XP_016883114.1:p.Leu135Gln
XM_024451822.1:c.404T>A	XP_024307590.1:p.Leu135Gln
NM_001256573.2:c.404T>A	NP_001243502.1:p.Leu135Gln
NR_046317.2:n.1141T>A
NM_000744.7:c.932T>A MANE Select	NP_000735.1:p.Leu311Gln