Canonical Allele Identifier: CA393585046
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601923A>C , CM000677.2:g.78601923A>C GRCh38
NC_000015.9:g.78894265A>C , CM000677.1:g.78894265A>C GRCh37
NC_000015.8:g.76681320A>C NCBI36
NG_016143.1:g.24373T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.719T>G MANE Select ENSP00000315602.5:p.Leu240Arg
ENST00000326828.5:c.719T>G ENSP00000315602.5:p.Leu240Arg
ENST00000348639.7:c.719T>G ENSP00000267951.4:p.Leu240Arg
ENST00000558903.1:n.426T>G
ENST00000559658.5:c.719T>G ENSP00000452896.1:p.Leu240Arg
NM_000743.4:c.719T>G NP_000734.2:p.Leu240Arg
NM_001166694.1:c.719T>G NP_001160166.1:p.Leu240Arg
NR_046313.1:n.1220T>G
XM_006720382.1:c.518T>G XP_006720445.1:p.Leu173Arg
XM_011521173.1:c.638T>G XP_011519475.1:p.Leu213Arg
XM_006720382.3:c.518T>G XP_006720445.1:p.Leu173Arg
NM_000743.5:c.719T>G MANE Select NP_000734.2:p.Leu240Arg
NM_001166694.2:c.719T>G NP_001160166.1:p.Leu240Arg
NR_046313.2:n.921T>G