Canonical Allele Identifier: CA9957591
Community Standard Title: NM_000744.7(CHRNA4):c.1483C>T (p.Arg495Ter)
Gene: CHRNA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63349928G>A , CM000682.2:g.63349928G>A GRCh38
NC_000020.10:g.61981280G>A , CM000682.1:g.61981280G>A GRCh37
NC_000020.9:g.61451724G>A NCBI36
NG_011931.1:g.16416C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000744.7:c.1483C>T MANE Select NP_000735.1:p.Arg495Ter
ENST00000370263.9:c.1483C>T MANE Select ENSP00000359285.4:p.Arg495Ter
NM_000744.6:c.1483C>T NP_000735.1:p.Arg495Ter
NM_001256573.1:c.955C>T NP_001243502.1:p.Arg319Ter
NM_001256573.2:c.955C>T NP_001243502.1:p.Arg319Ter
NR_046317.1:n.1739C>T
NR_046317.2:n.1692C>T
ENST00000370263.8:c.1483C>T ENSP00000359285.4:p.Arg495Ter
ENST00000463705.5:n.2131C>T
ENST00000467563.3:n.1553C>T
ENST00000498043.6:c.1507C>T
ENST00000615287.4:c.1270C>T ENSP00000483388.1:p.Arg424Ter
ENST00000627000.1:c.*1172C>T ENSP00000486914.1:n.*1172C>T
ENST00000630240.1:n.1204C>T
XM_011528524.1:c.1270C>T XP_011526826.1:p.Arg424Ter
XM_017027625.2:c.955C>T XP_016883114.1:p.Arg319Ter
XM_024451822.1:c.955C>T XP_024307590.1:p.Arg319Ter