Canonical Allele Identifier: CA2189597081
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs1596066628

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78593795C>T , CM000677.2:g.78593795C>T GRCh38
NC_000015.9:g.78886137C>T , CM000677.1:g.78886137C>T GRCh37
NC_000015.8:g.76673192C>T NCBI36
NG_016143.1:g.32501G>A
NG_023328.1:g.33276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*542C>T (CHRNA5) MANE Select ENSP00000299565.5:n.*542C>T
ENST00000348639.7:c.1390-604G>A (CHRNA3) ENSP00000267951.4:n.1390-604G>A
ENST00000559002.5:n.194-604G>A (CHRNA3)
ENST00000559658.5:c.*162+119G>A (CHRNA3) ENSP00000452896.1:n.*162+119G>A
NM_000745.3:c.*542C>T (CHRNA5) NP_000736.2:n.*542C>T
NM_001166694.1:c.1390-604G>A (CHRNA3) NP_001160166.1:n.1390-604G>A
NM_001307945.1:c.*679C>T (CHRNA5) NP_001294874.1:n.*679C>T
NR_046313.1:n.2181+119G>A (CHRNA3)
NM_001166694.2:c.1390-604G>A (CHRNA3) NP_001160166.1:n.1390-604G>A
NM_001307945.2:c.*679C>T (CHRNA5) NP_001294874.1:n.*679C>T
NR_046313.2:n.1882+119G>A (CHRNA3)
NM_000745.4:c.*542C>T (CHRNA5) MANE Select NP_000736.2:n.*542C>T
NM_001395171.1:c.*679C>T (CHRNA5) NP_001382100.1:n.*679C>T
NM_001395172.1:c.*542C>T (CHRNA5) NP_001382101.1:n.*542C>T
NM_001395173.1:c.*679C>T (CHRNA5) NP_001382102.1:n.*679C>T
NM_001395174.1:c.*679C>T (CHRNA5) NP_001382103.1:n.*679C>T
NM_001395175.1:c.*679C>T (CHRNA5) NP_001382104.1:n.*679C>T