Canonical Allele Identifier: CA409638365
Gene: CHRNA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350918C>G , CM000682.2:g.63350918C>G GRCh38
NC_000020.10:g.61982270C>G , CM000682.1:g.61982270C>G GRCh37
NC_000020.9:g.61452714C>G NCBI36
NG_011931.1:g.15426G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.493G>C MANE Select ENSP00000359285.4:p.Val165Leu
ENST00000370263.8:c.493G>C ENSP00000359285.4:p.Val165Leu
ENST00000463705.5:n.1141G>C
ENST00000467563.3:n.563G>C
ENST00000498043.6:c.517G>C
ENST00000615287.4:c.280G>C ENSP00000483388.1:p.Val94Leu
ENST00000627000.1:c.*182G>C ENSP00000486914.1:n.*182G>C
ENST00000628665.1:n.536G>C
ENST00000630240.1:n.214G>C
NM_000744.6:c.493G>C NP_000735.1:p.Val165Leu
NM_001256573.1:c.-36G>C NP_001243502.1:n.-36G>C
NR_046317.1:n.749G>C
XM_011528524.1:c.280G>C XP_011526826.1:p.Val94Leu
XM_017027625.2:c.-36G>C XP_016883114.1:n.-36G>C
XM_024451822.1:c.-36G>C XP_024307590.1:n.-36G>C
NM_001256573.2:c.-36G>C NP_001243502.1:n.-36G>C
NR_046317.2:n.702G>C
NM_000744.7:c.493G>C MANE Select NP_000735.1:p.Val165Leu