Canonical Allele Identifier: CA409632522

Gene: CHRNA4

Linked Data

• dbSNP Id: rs768292011
• gnomAD v3: 20-63349765-C-A
• gnomAD v4: 20-63349765-C-A
• MyVariant Identifiers: chr20:g.61981117C>A (hg19) ; chr20:g.63349765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63349765C>A , CM000682.2:g.63349765C>A	GRCh38
NC_000020.10:g.61981117C>A , CM000682.1:g.61981117C>A	GRCh37
NC_000020.9:g.61451561C>A	NCBI36
NG_011931.1:g.16579G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.1646G>T MANE Select	ENSP00000359285.4:p.Arg549Leu
ENST00000370263.8:c.1646G>T	ENSP00000359285.4:p.Arg549Leu
ENST00000463705.5:n.2294G>T
ENST00000467563.3:n.1716G>T
ENST00000498043.6:c.1670G>T
ENST00000615287.4:c.1433G>T	ENSP00000483388.1:p.Arg478Leu
ENST00000627000.1:c.*1335G>T	ENSP00000486914.1:n.*1335G>T
ENST00000630240.1:n.1367G>T
NM_000744.6:c.1646G>T	NP_000735.1:p.Arg549Leu
NM_001256573.1:c.1118G>T	NP_001243502.1:p.Arg373Leu
NR_046317.1:n.1902G>T
XM_011528524.1:c.1433G>T	XP_011526826.1:p.Arg478Leu
XM_017027625.2:c.1118G>T	XP_016883114.1:p.Arg373Leu
XM_024451822.1:c.1118G>T	XP_024307590.1:p.Arg373Leu
NM_001256573.2:c.1118G>T	NP_001243502.1:p.Arg373Leu
NR_046317.2:n.1855G>T
NM_000744.7:c.1646G>T MANE Select	NP_000735.1:p.Arg549Leu