Canonical Allele Identifier: CA2189597974
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594675C= , CM000677.2:g.78594675C= GRCh38
NC_000015.9:g.78887017C= , CM000677.1:g.78887017C= GRCh37
NC_000015.8:g.76674072C= NCBI36
NG_016143.1:g.31621G=
NG_023328.1:g.34156C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*1422C= (CHRNA5) MANE Select ENSP00000299565.5:n.*1422C=
ENST00000348639.7:c.1390-1484G= (CHRNA3) ENSP00000267951.4:n.1390-1484G=
ENST00000559002.5:n.194-1484G= (CHRNA3)
ENST00000559658.5:c.*65-664G= (CHRNA3) ENSP00000452896.1:n.*65-664G=
NM_000745.3:c.*1422C= (CHRNA5) NP_000736.2:n.*1422C=
NM_001166694.1:c.1390-1484G= (CHRNA3) NP_001160166.1:n.1390-1484G=
NM_001307945.1:c.*1559C= (CHRNA5) NP_001294874.1:n.*1559C=
NR_046313.1:n.2084-664G= (CHRNA3)
NM_001166694.2:c.1390-1484G= (CHRNA3) NP_001160166.1:n.1390-1484G=
NM_001307945.2:c.*1559C= (CHRNA5) NP_001294874.1:n.*1559C=
NR_046313.2:n.1785-664G= (CHRNA3)
NM_000745.4:c.*1422C= (CHRNA5) MANE Select NP_000736.2:n.*1422C=
NM_001395171.1:c.*1559C= (CHRNA5) NP_001382100.1:n.*1559C=
NM_001395172.1:c.*1422C= (CHRNA5) NP_001382101.1:n.*1422C=
NM_001395173.1:c.*1559C= (CHRNA5) NP_001382102.1:n.*1559C=
NM_001395174.1:c.*1559C= (CHRNA5) NP_001382103.1:n.*1559C=
NM_001395175.1:c.*1559C= (CHRNA5) NP_001382104.1:n.*1559C=