Canonical Allele Identifier: CA9957692

Gene: CHRNA4

Linked Data

• dbSNP Id: rs771524600
• ExAC: 20:61981797 G / A
• gnomAD v2: 20-61981797-G-A
• gnomAD v4: 20-63350445-G-A
• COSMIC: COSM3911799
• MyVariant Identifiers: chr20:g.61981797G>A (hg19) ; chr20:g.63350445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350445G>A , CM000682.2:g.63350445G>A	GRCh38
NC_000020.10:g.61981797G>A , CM000682.1:g.61981797G>A	GRCh37
NC_000020.9:g.61452241G>A	NCBI36
NG_011931.1:g.15899C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370263.9:c.966C>T MANE Select	ENSP00000359285.4:p.Val322=
ENST00000370263.8:c.966C>T	ENSP00000359285.4:p.Val322=
ENST00000463705.5:n.1614C>T
ENST00000467563.3:n.1036C>T
ENST00000498043.6:c.990C>T
ENST00000615287.4:c.753C>T	ENSP00000483388.1:p.Val251=
ENST00000627000.1:c.*655C>T	ENSP00000486914.1:n.*655C>T
ENST00000630240.1:n.687C>T
NM_000744.6:c.966C>T	NP_000735.1:p.Val322=
NM_001256573.1:c.438C>T	NP_001243502.1:p.Val146=
NR_046317.1:n.1222C>T
XM_011528524.1:c.753C>T	XP_011526826.1:p.Val251=
XM_017027625.2:c.438C>T	XP_016883114.1:p.Val146=
XM_024451822.1:c.438C>T	XP_024307590.1:p.Val146=
NM_001256573.2:c.438C>T	NP_001243502.1:p.Val146=
NR_046317.2:n.1175C>T
NM_000744.7:c.966C>T MANE Select	NP_000735.1:p.Val322=