Canonical Allele Identifier: CA393584856
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601884A>T , CM000677.2:g.78601884A>T GRCh38
NC_000015.9:g.78894226A>T , CM000677.1:g.78894226A>T GRCh37
NC_000015.8:g.76681281A>T NCBI36
NG_016143.1:g.24412T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.758T>A MANE Select ENSP00000315602.5:p.Leu253Gln
ENST00000326828.5:c.758T>A ENSP00000315602.5:p.Leu253Gln
ENST00000348639.7:c.758T>A ENSP00000267951.4:p.Leu253Gln
ENST00000558903.1:n.465T>A
ENST00000559658.5:c.758T>A ENSP00000452896.1:p.Leu253Gln
NM_000743.4:c.758T>A NP_000734.2:p.Leu253Gln
NM_001166694.1:c.758T>A NP_001160166.1:p.Leu253Gln
NR_046313.1:n.1259T>A
XM_006720382.1:c.557T>A XP_006720445.1:p.Leu186Gln
XM_011521173.1:c.677T>A XP_011519475.1:p.Leu226Gln
XM_006720382.3:c.557T>A XP_006720445.1:p.Leu186Gln
NM_000743.5:c.758T>A MANE Select NP_000734.2:p.Leu253Gln
NM_001166694.2:c.758T>A NP_001160166.1:p.Leu253Gln
NR_046313.2:n.960T>A