Canonical Allele Identifier: CA409638311
Gene: CHRNA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1411731
ClinVar RCV Id: RCV001943034
dbSNP Id: rs1488210391

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350909A>G , CM000682.2:g.63350909A>G GRCh38
NC_000020.10:g.61982261A>G , CM000682.1:g.61982261A>G GRCh37
NC_000020.9:g.61452705A>G NCBI36
NG_011931.1:g.15435T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.502T>C MANE Select ENSP00000359285.4:p.Phe168Leu
ENST00000370263.8:c.502T>C ENSP00000359285.4:p.Phe168Leu
ENST00000463705.5:n.1150T>C
ENST00000467563.3:n.572T>C
ENST00000498043.6:c.526T>C
ENST00000615287.4:c.289T>C ENSP00000483388.1:p.Phe97Leu
ENST00000627000.1:c.*191T>C ENSP00000486914.1:n.*191T>C
ENST00000628665.1:n.545T>C
ENST00000630240.1:n.223T>C
NM_000744.6:c.502T>C NP_000735.1:p.Phe168Leu
NM_001256573.1:c.-27T>C NP_001243502.1:n.-27T>C
NR_046317.1:n.758T>C
XM_011528524.1:c.289T>C XP_011526826.1:p.Phe97Leu
XM_017027625.2:c.-27T>C XP_016883114.1:n.-27T>C
XM_024451822.1:c.-27T>C XP_024307590.1:n.-27T>C
NM_001256573.2:c.-27T>C NP_001243502.1:n.-27T>C
NR_046317.2:n.711T>C
NM_000744.7:c.502T>C MANE Select NP_000735.1:p.Phe168Leu