Canonical Allele Identifier: CA9957694
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 421774
dbSNP Id: rs375340441

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350450T>C , CM000682.2:g.63350450T>C GRCh38
NC_000020.10:g.61981802T>C , CM000682.1:g.61981802T>C GRCh37
NC_000020.9:g.61452246T>C NCBI36
NG_011931.1:g.15894A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.961A>G MANE Select ENSP00000359285.4:p.Ile321Val
ENST00000370263.8:c.961A>G ENSP00000359285.4:p.Ile321Val
ENST00000463705.5:n.1609A>G
ENST00000467563.3:n.1031A>G
ENST00000498043.6:c.985A>G
ENST00000615287.4:c.748A>G ENSP00000483388.1:p.Ile250Val
ENST00000627000.1:c.*650A>G ENSP00000486914.1:n.*650A>G
ENST00000630240.1:n.682A>G
NM_000744.6:c.961A>G NP_000735.1:p.Ile321Val
NM_001256573.1:c.433A>G NP_001243502.1:p.Ile145Val
NR_046317.1:n.1217A>G
XM_011528524.1:c.748A>G XP_011526826.1:p.Ile250Val
XM_017027625.2:c.433A>G XP_016883114.1:p.Ile145Val
XM_024451822.1:c.433A>G XP_024307590.1:p.Ile145Val
NM_001256573.2:c.433A>G NP_001243502.1:p.Ile145Val
NR_046317.2:n.1170A>G
NM_000744.7:c.961A>G MANE Select NP_000735.1:p.Ile321Val