Canonical Allele Identifier: CA913190635

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 594868
• ClinVar RCV Id: RCV000730262
• dbSNP Id: rs1568809897

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350508dup , CM000682.2:g.63350508dup	GRCh38
NC_000020.10:g.61981860dup , CM000682.1:g.61981860dup	GRCh37
NC_000020.9:g.61452304dup	NCBI36
NG_011931.1:g.15837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.904dup MANE Select	ENSP00000359285.4:p.Val302GlyfsTer?
ENST00000370263.8:c.904dup	ENSP00000359285.4:p.Val302GlyfsTer?
ENST00000463705.5:n.1552dup
ENST00000467563.3:n.974dup
ENST00000498043.6:c.928dup
ENST00000615287.4:c.691dup	ENSP00000483388.1:p.Val231GlyfsTer?
ENST00000627000.1:c.*593dup	ENSP00000486914.1:n.*593dup
ENST00000630240.1:n.625dup
NM_000744.6:c.904dup	NP_000735.1:p.Val302GlyfsTer?
NM_001256573.1:c.376dup	NP_001243502.1:p.Val126GlyfsTer?
NR_046317.1:n.1160dup
XM_011528524.1:c.691dup	XP_011526826.1:p.Val231GlyfsTer?
XM_017027625.2:c.376dup	XP_016883114.1:p.Val126GlyfsTer?
XM_024451822.1:c.376dup	XP_024307590.1:p.Val126GlyfsTer?
NM_001256573.2:c.376dup	NP_001243502.1:p.Val126GlyfsTer?
NR_046317.2:n.1113dup
NM_000744.7:c.904dup MANE Select	NP_000735.1:p.Val302GlyfsTer?