Canonical Allele Identifier: CA2189597900
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs1596067474

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594609T>G , CM000677.2:g.78594609T>G GRCh38
NC_000015.9:g.78886951T>G , CM000677.1:g.78886951T>G GRCh37
NC_000015.8:g.76674006T>G NCBI36
NG_016143.1:g.31687A>C
NG_023328.1:g.34090T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.*1356T>G (CHRNA5) MANE Select ENSP00000299565.5:n.*1356T>G
ENST00000348639.7:c.1390-1418A>C (CHRNA3) ENSP00000267951.4:n.1390-1418A>C
ENST00000559002.5:n.194-1418A>C (CHRNA3)
ENST00000559658.5:c.*65-598A>C (CHRNA3) ENSP00000452896.1:n.*65-598A>C
NM_000745.3:c.*1356T>G (CHRNA5) NP_000736.2:n.*1356T>G
NM_001166694.1:c.1390-1418A>C (CHRNA3) NP_001160166.1:n.1390-1418A>C
NM_001307945.1:c.*1493T>G (CHRNA5) NP_001294874.1:n.*1493T>G
NR_046313.1:n.2084-598A>C (CHRNA3)
NM_001166694.2:c.1390-1418A>C (CHRNA3) NP_001160166.1:n.1390-1418A>C
NM_001307945.2:c.*1493T>G (CHRNA5) NP_001294874.1:n.*1493T>G
NR_046313.2:n.1785-598A>C (CHRNA3)
NM_000745.4:c.*1356T>G (CHRNA5) MANE Select NP_000736.2:n.*1356T>G
NM_001395171.1:c.*1493T>G (CHRNA5) NP_001382100.1:n.*1493T>G
NM_001395172.1:c.*1356T>G (CHRNA5) NP_001382101.1:n.*1356T>G
NM_001395173.1:c.*1493T>G (CHRNA5) NP_001382102.1:n.*1493T>G
NM_001395174.1:c.*1493T>G (CHRNA5) NP_001382103.1:n.*1493T>G
NM_001395175.1:c.*1493T>G (CHRNA5) NP_001382104.1:n.*1493T>G