Canonical Allele Identifier: CA409636480

Gene: CHRNA4

Linked Data

• MyVariant Identifiers: chr20:g.61981909A>C (hg19) ; chr20:g.63350557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350557A>C , CM000682.2:g.63350557A>C	GRCh38
NC_000020.10:g.61981909A>C , CM000682.1:g.61981909A>C	GRCh37
NC_000020.9:g.61452353A>C	NCBI36
NG_011931.1:g.15787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.854T>G MANE Select	ENSP00000359285.4:p.Leu285Arg
ENST00000370263.8:c.854T>G	ENSP00000359285.4:p.Leu285Arg
ENST00000463705.5:n.1502T>G
ENST00000467563.3:n.924T>G
ENST00000498043.6:c.878T>G
ENST00000615287.4:c.641T>G	ENSP00000483388.1:p.Leu214Arg
ENST00000627000.1:c.*543T>G	ENSP00000486914.1:n.*543T>G
ENST00000630240.1:n.575T>G
NM_000744.6:c.854T>G	NP_000735.1:p.Leu285Arg
NM_001256573.1:c.326T>G	NP_001243502.1:p.Leu109Arg
NR_046317.1:n.1110T>G
XM_011528524.1:c.641T>G	XP_011526826.1:p.Leu214Arg
XM_017027625.2:c.326T>G	XP_016883114.1:p.Leu109Arg
XM_024451822.1:c.326T>G	XP_024307590.1:p.Leu109Arg
NM_001256573.2:c.326T>G	NP_001243502.1:p.Leu109Arg
NR_046317.2:n.1063T>G
NM_000744.7:c.854T>G MANE Select	NP_000735.1:p.Leu285Arg