Canonical Allele Identifier: CA409635467

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1717322
• ClinVar RCV Id: RCV002297519
• MyVariant Identifiers: chr20:g.61981730G>C (hg19) ; chr20:g.63350378G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350378G>C , CM000682.2:g.63350378G>C	GRCh38
NC_000020.10:g.61981730G>C , CM000682.1:g.61981730G>C	GRCh37
NC_000020.9:g.61452174G>C	NCBI36
NG_011931.1:g.15966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.1033C>G MANE Select	ENSP00000359285.4:p.Arg345Gly
ENST00000370263.8:c.1033C>G	ENSP00000359285.4:p.Arg345Gly
ENST00000463705.5:n.1681C>G
ENST00000467563.3:n.1103C>G
ENST00000498043.6:c.1057C>G
ENST00000615287.4:c.820C>G	ENSP00000483388.1:p.Arg274Gly
ENST00000627000.1:c.*722C>G	ENSP00000486914.1:n.*722C>G
ENST00000630240.1:n.754C>G
NM_000744.6:c.1033C>G	NP_000735.1:p.Arg345Gly
NM_001256573.1:c.505C>G	NP_001243502.1:p.Arg169Gly
NR_046317.1:n.1289C>G
XM_011528524.1:c.820C>G	XP_011526826.1:p.Arg274Gly
XM_017027625.2:c.505C>G	XP_016883114.1:p.Arg169Gly
XM_024451822.1:c.505C>G	XP_024307590.1:p.Arg169Gly
NM_001256573.2:c.505C>G	NP_001243502.1:p.Arg169Gly
NR_046317.2:n.1242C>G
NM_000744.7:c.1033C>G MANE Select	NP_000735.1:p.Arg345Gly