Canonical Allele Identifier: CA393585044
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.719T>C MANE Select ENSP00000315602.5:p.Leu240Pro
ENST00000326828.5:c.719T>C ENSP00000315602.5:p.Leu240Pro
ENST00000348639.7:c.719T>C ENSP00000267951.4:p.Leu240Pro
ENST00000558903.1:n.426T>C
ENST00000559658.5:c.719T>C ENSP00000452896.1:p.Leu240Pro
NM_000743.4:c.719T>C NP_000734.2:p.Leu240Pro
NM_001166694.1:c.719T>C NP_001160166.1:p.Leu240Pro
NR_046313.1:n.1220T>C
XM_006720382.1:c.518T>C XP_006720445.1:p.Leu173Pro
XM_011521173.1:c.638T>C XP_011519475.1:p.Leu213Pro
XM_006720382.3:c.518T>C XP_006720445.1:p.Leu173Pro
NM_000743.5:c.719T>C MANE Select NP_000734.2:p.Leu240Pro
NM_001166694.2:c.719T>C NP_001160166.1:p.Leu240Pro
NR_046313.2:n.921T>C