Canonical Allele Identifier: CA9957704

Gene: CHRNA4

Linked Data

• dbSNP Id: rs779423230
• ExAC: 20:61981856 T / C
• gnomAD v2: 20-61981856-T-C
• MyVariant Identifiers: chr20:g.61981856T>C (hg19) ; chr20:g.63350504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350504T>C , CM000682.2:g.63350504T>C	GRCh38
NC_000020.10:g.61981856T>C , CM000682.1:g.61981856T>C	GRCh37
NC_000020.9:g.61452300T>C	NCBI36
NG_011931.1:g.15840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.907A>G MANE Select	ENSP00000359285.4:p.Ile303Val
ENST00000370263.8:c.907A>G	ENSP00000359285.4:p.Ile303Val
ENST00000463705.5:n.1555A>G
ENST00000467563.3:n.977A>G
ENST00000498043.6:c.931A>G
ENST00000615287.4:c.694A>G	ENSP00000483388.1:p.Ile232Val
ENST00000627000.1:c.*596A>G	ENSP00000486914.1:n.*596A>G
ENST00000630240.1:n.628A>G
NM_000744.6:c.907A>G	NP_000735.1:p.Ile303Val
NM_001256573.1:c.379A>G	NP_001243502.1:p.Ile127Val
NR_046317.1:n.1163A>G
XM_011528524.1:c.694A>G	XP_011526826.1:p.Ile232Val
XM_017027625.2:c.379A>G	XP_016883114.1:p.Ile127Val
XM_024451822.1:c.379A>G	XP_024307590.1:p.Ile127Val
NM_001256573.2:c.379A>G	NP_001243502.1:p.Ile127Val
NR_046317.2:n.1116A>G
NM_000744.7:c.907A>G MANE Select	NP_000735.1:p.Ile303Val