Canonical Allele Identifier: CA409636686

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1044796
• ClinVar RCV Id: RCV001349102 ; RCV003994276
• dbSNP Id: rs2068579508
• MyVariant Identifiers: chr20:g.61981963A>C (hg19) ; chr20:g.63350611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350611A>C , CM000682.2:g.63350611A>C	GRCh38
NC_000020.10:g.61981963A>C , CM000682.1:g.61981963A>C	GRCh37
NC_000020.9:g.61452407A>C	NCBI36
NG_011931.1:g.15733T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.800T>G MANE Select	ENSP00000359285.4:p.Leu267Arg
ENST00000370263.8:c.800T>G	ENSP00000359285.4:p.Leu267Arg
ENST00000463705.5:n.1448T>G
ENST00000467563.3:n.870T>G
ENST00000498043.6:c.824T>G
ENST00000615287.4:c.587T>G	ENSP00000483388.1:p.Leu196Arg
ENST00000627000.1:c.*489T>G	ENSP00000486914.1:n.*489T>G
ENST00000630240.1:n.521T>G
NM_000744.6:c.800T>G	NP_000735.1:p.Leu267Arg
NM_001256573.1:c.272T>G	NP_001243502.1:p.Leu91Arg
NR_046317.1:n.1056T>G
XM_011528524.1:c.587T>G	XP_011526826.1:p.Leu196Arg
XM_017027625.2:c.272T>G	XP_016883114.1:p.Leu91Arg
XM_024451822.1:c.272T>G	XP_024307590.1:p.Leu91Arg
NM_001256573.2:c.272T>G	NP_001243502.1:p.Leu91Arg
NR_046317.2:n.1009T>G
NM_000744.7:c.800T>G MANE Select	NP_000735.1:p.Leu267Arg