Canonical Allele Identifier: CA409635957
Gene: CHRNA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63350456G>T , CM000682.2:g.63350456G>T GRCh38
NC_000020.10:g.61981808G>T , CM000682.1:g.61981808G>T GRCh37
NC_000020.9:g.61452252G>T NCBI36
NG_011931.1:g.15888C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370263.9:c.955C>A MANE Select ENSP00000359285.4:p.Leu319Met
ENST00000370263.8:c.955C>A ENSP00000359285.4:p.Leu319Met
ENST00000463705.5:n.1603C>A
ENST00000467563.3:n.1025C>A
ENST00000498043.6:c.979C>A
ENST00000615287.4:c.742C>A ENSP00000483388.1:p.Leu248Met
ENST00000627000.1:c.*644C>A ENSP00000486914.1:n.*644C>A
ENST00000630240.1:n.676C>A
NM_000744.6:c.955C>A NP_000735.1:p.Leu319Met
NM_001256573.1:c.427C>A NP_001243502.1:p.Leu143Met
NR_046317.1:n.1211C>A
XM_011528524.1:c.742C>A XP_011526826.1:p.Leu248Met
XM_017027625.2:c.427C>A XP_016883114.1:p.Leu143Met
XM_024451822.1:c.427C>A XP_024307590.1:p.Leu143Met
NM_001256573.2:c.427C>A NP_001243502.1:p.Leu143Met
NR_046317.2:n.1164C>A
NM_000744.7:c.955C>A MANE Select NP_000735.1:p.Leu319Met