Canonical Allele Identifier: CA409636418

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2008609
• ClinVar RCV Id: RCV002816634
• MyVariant Identifiers: chr20:g.61981892G>A (hg19) ; chr20:g.63350540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350540G>A , CM000682.2:g.63350540G>A	GRCh38
NC_000020.10:g.61981892G>A , CM000682.1:g.61981892G>A	GRCh37
NC_000020.9:g.61452336G>A	NCBI36
NG_011931.1:g.15804C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.871C>T MANE Select	ENSP00000359285.4:p.Leu291Phe
ENST00000370263.8:c.871C>T	ENSP00000359285.4:p.Leu291Phe
ENST00000463705.5:n.1519C>T
ENST00000467563.3:n.941C>T
ENST00000498043.6:c.895C>T
ENST00000615287.4:c.658C>T	ENSP00000483388.1:p.Leu220Phe
ENST00000627000.1:c.*560C>T	ENSP00000486914.1:n.*560C>T
ENST00000630240.1:n.592C>T
NM_000744.6:c.871C>T	NP_000735.1:p.Leu291Phe
NM_001256573.1:c.343C>T	NP_001243502.1:p.Leu115Phe
NR_046317.1:n.1127C>T
XM_011528524.1:c.658C>T	XP_011526826.1:p.Leu220Phe
XM_017027625.2:c.343C>T	XP_016883114.1:p.Leu115Phe
XM_024451822.1:c.343C>T	XP_024307590.1:p.Leu115Phe
NM_001256573.2:c.343C>T	NP_001243502.1:p.Leu115Phe
NR_046317.2:n.1080C>T
NM_000744.7:c.871C>T MANE Select	NP_000735.1:p.Leu291Phe