Canonical Allele Identifier: CA2575805878
Gene: CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78595990A>G , CM000677.2:g.78595990A>G GRCh38
NC_000015.9:g.78888332A>G , CM000677.1:g.78888332A>G GRCh37
NC_000015.8:g.76675387A>G NCBI36
NG_016143.1:g.30306T>C
NG_023328.1:g.35471A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326828.6:c.*614T>C MANE Select ENSP00000315602.5:n.*614T>C
ENST00000326828.5:c.*614T>C ENSP00000315602.5:n.*614T>C
ENST00000348639.7:c.1390-2799T>C ENSP00000267951.4:n.1390-2799T>C
ENST00000559002.5:n.193+550T>C
ENST00000559658.5:c.*64+550T>C ENSP00000452896.1:n.*64+550T>C
NM_000743.4:c.*614T>C NP_000734.2:n.*614T>C
NM_001166694.1:c.1390-2799T>C NP_001160166.1:n.1390-2799T>C
NR_046313.1:n.2083+550T>C
XM_006720382.1:c.*614T>C XP_006720445.1:n.*614T>C
XM_011521173.1:c.*614T>C XP_011519475.1:n.*614T>C
XM_006720382.3:c.*614T>C XP_006720445.1:n.*614T>C
NM_000743.5:c.*614T>C MANE Select NP_000734.2:n.*614T>C
NM_001166694.2:c.1390-2799T>C NP_001160166.1:n.1390-2799T>C
NR_046313.2:n.1784+550T>C