Canonical Allele Identifier: CA9957712
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 238182
dbSNP Id: rs139694653

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350535G>A , CM000682.2:g.63350535G>A GRCh38
NC_000020.10:g.61981887G>A , CM000682.1:g.61981887G>A GRCh37
NC_000020.9:g.61452331G>A NCBI36
NG_011931.1:g.15809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.876C>T MANE Select ENSP00000359285.4:p.Ile292=
ENST00000370263.8:c.876C>T ENSP00000359285.4:p.Ile292=
ENST00000463705.5:n.1524C>T
ENST00000467563.3:n.946C>T
ENST00000498043.6:c.900C>T
ENST00000615287.4:c.663C>T ENSP00000483388.1:p.Ile221=
ENST00000627000.1:c.*565C>T ENSP00000486914.1:n.*565C>T
ENST00000630240.1:n.597C>T
NM_000744.6:c.876C>T NP_000735.1:p.Ile292=
NM_001256573.1:c.348C>T NP_001243502.1:p.Ile116=
NR_046317.1:n.1132C>T
XM_011528524.1:c.663C>T XP_011526826.1:p.Ile221=
XM_017027625.2:c.348C>T XP_016883114.1:p.Ile116=
XM_024451822.1:c.348C>T XP_024307590.1:p.Ile116=
NM_001256573.2:c.348C>T NP_001243502.1:p.Ile116=
NR_046317.2:n.1085C>T
NM_000744.7:c.876C>T MANE Select NP_000735.1:p.Ile292=