Canonical Allele Identifier: CA393584941
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601899A>T , CM000677.2:g.78601899A>T GRCh38
NC_000015.9:g.78894241A>T , CM000677.1:g.78894241A>T GRCh37
NC_000015.8:g.76681296A>T NCBI36
NG_016143.1:g.24397T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326828.6:c.743T>A MANE Select ENSP00000315602.5:p.Leu248His
ENST00000326828.5:c.743T>A ENSP00000315602.5:p.Leu248His
ENST00000348639.7:c.743T>A ENSP00000267951.4:p.Leu248His
ENST00000558903.1:n.450T>A
ENST00000559658.5:c.743T>A ENSP00000452896.1:p.Leu248His
NM_000743.4:c.743T>A NP_000734.2:p.Leu248His
NM_001166694.1:c.743T>A NP_001160166.1:p.Leu248His
NR_046313.1:n.1244T>A
XM_006720382.1:c.542T>A XP_006720445.1:p.Leu181His
XM_011521173.1:c.662T>A XP_011519475.1:p.Leu221His
XM_006720382.3:c.542T>A XP_006720445.1:p.Leu181His
NM_000743.5:c.743T>A MANE Select NP_000734.2:p.Leu248His
NM_001166694.2:c.743T>A NP_001160166.1:p.Leu248His
NR_046313.2:n.945T>A