Canonical Allele Identifier: CA2189596994
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs2053049193

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593697A>G , CM000677.2:g.78593697A>G GRCh38
NC_000015.9:g.78886039A>G , CM000677.1:g.78886039A>G GRCh37
NC_000015.8:g.76673094A>G NCBI36
NG_016143.1:g.32599T>C
NG_023328.1:g.33178A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299565.9:c.*444A>G (CHRNA5) MANE Select ENSP00000299565.5:n.*444A>G
ENST00000348639.7:c.1390-506T>C (CHRNA3) ENSP00000267951.4:n.1390-506T>C
ENST00000559002.5:n.194-506T>C (CHRNA3)
ENST00000559576.1:c.751A>G (CHRNA5)
ENST00000559658.5:c.*162+217T>C (CHRNA3) ENSP00000452896.1:n.*162+217T>C
NM_000745.3:c.*444A>G (CHRNA5) NP_000736.2:n.*444A>G
NM_001166694.1:c.1390-506T>C (CHRNA3) NP_001160166.1:n.1390-506T>C
NM_001307945.1:c.*581A>G (CHRNA5) NP_001294874.1:n.*581A>G
NR_046313.1:n.2181+217T>C (CHRNA3)
NM_001166694.2:c.1390-506T>C (CHRNA3) NP_001160166.1:n.1390-506T>C
NM_001307945.2:c.*581A>G (CHRNA5) NP_001294874.1:n.*581A>G
NR_046313.2:n.1882+217T>C (CHRNA3)
NM_000745.4:c.*444A>G (CHRNA5) MANE Select NP_000736.2:n.*444A>G
NM_001395171.1:c.*581A>G (CHRNA5) NP_001382100.1:n.*581A>G
NM_001395172.1:c.*444A>G (CHRNA5) NP_001382101.1:n.*444A>G
NM_001395173.1:c.*581A>G (CHRNA5) NP_001382102.1:n.*581A>G
NM_001395174.1:c.*581A>G (CHRNA5) NP_001382103.1:n.*581A>G
NM_001395175.1:c.*581A>G (CHRNA5) NP_001382104.1:n.*581A>G