Canonical Allele Identifier: CA409637909

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 2541877
• ClinVar RCV Id: RCV003256885
• dbSNP Id: rs2068585992
• gnomAD v4: 20-63350848-T-C
• MyVariant Identifiers: chr20:g.61982200T>C (hg19) ; chr20:g.63350848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350848T>C , CM000682.2:g.63350848T>C	GRCh38
NC_000020.10:g.61982200T>C , CM000682.1:g.61982200T>C	GRCh37
NC_000020.9:g.61452644T>C	NCBI36
NG_011931.1:g.15496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.563A>G MANE Select	ENSP00000359285.4:p.Lys188Arg
ENST00000370263.8:c.563A>G	ENSP00000359285.4:p.Lys188Arg
ENST00000463705.5:n.1211A>G
ENST00000467563.3:n.633A>G
ENST00000498043.6:c.587A>G
ENST00000615287.4:c.350A>G	ENSP00000483388.1:p.Lys117Arg
ENST00000627000.1:c.*252A>G	ENSP00000486914.1:n.*252A>G
ENST00000630240.1:n.284A>G
NM_000744.6:c.563A>G	NP_000735.1:p.Lys188Arg
NM_001256573.1:c.35A>G	NP_001243502.1:p.Lys12Arg
NR_046317.1:n.819A>G
XM_011528524.1:c.350A>G	XP_011526826.1:p.Lys117Arg
XM_017027625.2:c.35A>G	XP_016883114.1:p.Lys12Arg
XM_024451822.1:c.35A>G	XP_024307590.1:p.Lys12Arg
NM_001256573.2:c.35A>G	NP_001243502.1:p.Lys12Arg
NR_046317.2:n.772A>G
NM_000744.7:c.563A>G MANE Select	NP_000735.1:p.Lys188Arg