Canonical Allele Identifier: CA9957686

Gene: CHRNA4

Linked Data

• dbSNP Id: rs752812151
• ExAC: 20:61981781 G / C
• gnomAD v4: 20-63350429-G-C
• MyVariant Identifiers: chr20:g.61981781G>C (hg19) ; chr20:g.63350429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350429G>C , CM000682.2:g.63350429G>C	GRCh38
NC_000020.10:g.61981781G>C , CM000682.1:g.61981781G>C	GRCh37
NC_000020.9:g.61452225G>C	NCBI36
NG_011931.1:g.15915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.982C>G MANE Select	ENSP00000359285.4:p.Leu328Val
ENST00000370263.8:c.982C>G	ENSP00000359285.4:p.Leu328Val
ENST00000463705.5:n.1630C>G
ENST00000467563.3:n.1052C>G
ENST00000498043.6:c.1006C>G
ENST00000615287.4:c.769C>G	ENSP00000483388.1:p.Leu257Val
ENST00000627000.1:c.*671C>G	ENSP00000486914.1:n.*671C>G
ENST00000630240.1:n.703C>G
NM_000744.6:c.982C>G	NP_000735.1:p.Leu328Val
NM_001256573.1:c.454C>G	NP_001243502.1:p.Leu152Val
NR_046317.1:n.1238C>G
XM_011528524.1:c.769C>G	XP_011526826.1:p.Leu257Val
XM_017027625.2:c.454C>G	XP_016883114.1:p.Leu152Val
XM_024451822.1:c.454C>G	XP_024307590.1:p.Leu152Val
NM_001256573.2:c.454C>G	NP_001243502.1:p.Leu152Val
NR_046317.2:n.1191C>G
NM_000744.7:c.982C>G MANE Select	NP_000735.1:p.Leu328Val