Canonical Allele Identifier: CA409636643

Gene: CHRNA4

Linked Data

• dbSNP Id: rs2068579189
• gnomAD v3: 20-63350600-A-G
• gnomAD v4: 20-63350600-A-G
• MyVariant Identifiers: chr20:g.61981952A>G (hg19) ; chr20:g.63350600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350600A>G , CM000682.2:g.63350600A>G	GRCh38
NC_000020.10:g.61981952A>G , CM000682.1:g.61981952A>G	GRCh37
NC_000020.9:g.61452396A>G	NCBI36
NG_011931.1:g.15744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.811T>C MANE Select	ENSP00000359285.4:p.Cys271Arg
ENST00000370263.8:c.811T>C	ENSP00000359285.4:p.Cys271Arg
ENST00000463705.5:n.1459T>C
ENST00000467563.3:n.881T>C
ENST00000498043.6:c.835T>C
ENST00000615287.4:c.598T>C	ENSP00000483388.1:p.Cys200Arg
ENST00000627000.1:c.*500T>C	ENSP00000486914.1:n.*500T>C
ENST00000630240.1:n.532T>C
NM_000744.6:c.811T>C	NP_000735.1:p.Cys271Arg
NM_001256573.1:c.283T>C	NP_001243502.1:p.Cys95Arg
NR_046317.1:n.1067T>C
XM_011528524.1:c.598T>C	XP_011526826.1:p.Cys200Arg
XM_017027625.2:c.283T>C	XP_016883114.1:p.Cys95Arg
XM_024451822.1:c.283T>C	XP_024307590.1:p.Cys95Arg
NM_001256573.2:c.283T>C	NP_001243502.1:p.Cys95Arg
NR_046317.2:n.1020T>C
NM_000744.7:c.811T>C MANE Select	NP_000735.1:p.Cys271Arg