Canonical Allele Identifier: CA409636000

Gene: CHRNA4

Linked Data

• dbSNP Id: rs121912259
• gnomAD v4: 20-63350463-G-T
• MyVariant Identifiers: chr20:g.61981815G>T (hg19) ; chr20:g.63350463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350463G>T , CM000682.2:g.63350463G>T	GRCh38
NC_000020.10:g.61981815G>T , CM000682.1:g.61981815G>T	GRCh37
NC_000020.9:g.61452259G>T	NCBI36
NG_011931.1:g.15881C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.948C>A MANE Select	ENSP00000359285.4:p.Phe316Leu
ENST00000370263.8:c.948C>A	ENSP00000359285.4:p.Phe316Leu
ENST00000463705.5:n.1596C>A
ENST00000467563.3:n.1018C>A
ENST00000498043.6:c.972C>A
ENST00000615287.4:c.735C>A	ENSP00000483388.1:p.Phe245Leu
ENST00000627000.1:c.*637C>A	ENSP00000486914.1:n.*637C>A
ENST00000630240.1:n.669C>A
NM_000744.6:c.948C>A	NP_000735.1:p.Phe316Leu
NM_001256573.1:c.420C>A	NP_001243502.1:p.Phe140Leu
NR_046317.1:n.1204C>A
XM_011528524.1:c.735C>A	XP_011526826.1:p.Phe245Leu
XM_017027625.2:c.420C>A	XP_016883114.1:p.Phe140Leu
XM_024451822.1:c.420C>A	XP_024307590.1:p.Phe140Leu
NM_001256573.2:c.420C>A	NP_001243502.1:p.Phe140Leu
NR_046317.2:n.1157C>A
NM_000744.7:c.948C>A MANE Select	NP_000735.1:p.Phe316Leu