Canonical Allele Identifier: CA409635848

Gene: CHRNA4

Linked Data

• gnomAD v4: 20-63350437-A-G
• COSMIC: COSM5366151
• MyVariant Identifiers: chr20:g.61981789A>G (hg19) ; chr20:g.63350437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350437A>G , CM000682.2:g.63350437A>G	GRCh38
NC_000020.10:g.61981789A>G , CM000682.1:g.61981789A>G	GRCh37
NC_000020.9:g.61452233A>G	NCBI36
NG_011931.1:g.15907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.974T>C MANE Select	ENSP00000359285.4:p.Val325Ala
ENST00000370263.8:c.974T>C	ENSP00000359285.4:p.Val325Ala
ENST00000463705.5:n.1622T>C
ENST00000467563.3:n.1044T>C
ENST00000498043.6:c.998T>C
ENST00000615287.4:c.761T>C	ENSP00000483388.1:p.Val254Ala
ENST00000627000.1:c.*663T>C	ENSP00000486914.1:n.*663T>C
ENST00000630240.1:n.695T>C
NM_000744.6:c.974T>C	NP_000735.1:p.Val325Ala
NM_001256573.1:c.446T>C	NP_001243502.1:p.Val149Ala
NR_046317.1:n.1230T>C
XM_011528524.1:c.761T>C	XP_011526826.1:p.Val254Ala
XM_017027625.2:c.446T>C	XP_016883114.1:p.Val149Ala
XM_024451822.1:c.446T>C	XP_024307590.1:p.Val149Ala
NM_001256573.2:c.446T>C	NP_001243502.1:p.Val149Ala
NR_046317.2:n.1183T>C
NM_000744.7:c.974T>C MANE Select	NP_000735.1:p.Val325Ala