Canonical Allele Identifier: CA409637788
Gene: CHRNA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350831T>G , CM000682.2:g.63350831T>G GRCh38
NC_000020.10:g.61982183T>G , CM000682.1:g.61982183T>G GRCh37
NC_000020.9:g.61452627T>G NCBI36
NG_011931.1:g.15513A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.580A>C MANE Select ENSP00000359285.4:p.Met194Leu
ENST00000370263.8:c.580A>C ENSP00000359285.4:p.Met194Leu
ENST00000463705.5:n.1228A>C
ENST00000467563.3:n.650A>C
ENST00000498043.6:c.604A>C
ENST00000615287.4:c.367A>C ENSP00000483388.1:p.Met123Leu
ENST00000627000.1:c.*269A>C ENSP00000486914.1:n.*269A>C
ENST00000630240.1:n.301A>C
NM_000744.6:c.580A>C NP_000735.1:p.Met194Leu
NM_001256573.1:c.52A>C NP_001243502.1:p.Met18Leu
NR_046317.1:n.836A>C
XM_011528524.1:c.367A>C XP_011526826.1:p.Met123Leu
XM_017027625.2:c.52A>C XP_016883114.1:p.Met18Leu
XM_024451822.1:c.52A>C XP_024307590.1:p.Met18Leu
NM_001256573.2:c.52A>C NP_001243502.1:p.Met18Leu
NR_046317.2:n.789A>C
NM_000744.7:c.580A>C MANE Select NP_000735.1:p.Met194Leu