Canonical Allele Identifier: CA273899368
Gene: CHRNA5 HGNC NCBI
CHRNA3 HGNC NCBI

Linked Data

dbSNP Id: rs888573147

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78594927C>A , CM000677.2:g.78594927C>A GRCh38
NC_000015.9:g.78887269C>A , CM000677.1:g.78887269C>A GRCh37
NC_000015.8:g.76674324C>A NCBI36
NG_016143.1:g.31369G>T
NG_023328.1:g.34408C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.*1674C>A (CHRNA5) MANE Select ENSP00000299565.5:n.*1674C>A
ENST00000348639.7:c.1390-1736G>T (CHRNA3) ENSP00000267951.4:n.1390-1736G>T
ENST00000559002.5:n.193+1613G>T (CHRNA3)
ENST00000559658.5:c.*65-916G>T (CHRNA3) ENSP00000452896.1:n.*65-916G>T
NM_000745.3:c.*1674C>A (CHRNA5) NP_000736.2:n.*1674C>A
NM_001166694.1:c.1390-1736G>T (CHRNA3) NP_001160166.1:n.1390-1736G>T
NM_001307945.1:c.*1811C>A (CHRNA5) NP_001294874.1:n.*1811C>A
NR_046313.1:n.2084-916G>T (CHRNA3)
NM_001166694.2:c.1390-1736G>T (CHRNA3) NP_001160166.1:n.1390-1736G>T
NM_001307945.2:c.*1811C>A (CHRNA5) NP_001294874.1:n.*1811C>A
NR_046313.2:n.1785-916G>T (CHRNA3)
NM_000745.4:c.*1674C>A (CHRNA5) MANE Select NP_000736.2:n.*1674C>A
NM_001395171.1:c.*1811C>A (CHRNA5) NP_001382100.1:n.*1811C>A
NM_001395172.1:c.*1674C>A (CHRNA5) NP_001382101.1:n.*1674C>A
NM_001395173.1:c.*1811C>A (CHRNA5) NP_001382102.1:n.*1811C>A
NM_001395174.1:c.*1811C>A (CHRNA5) NP_001382103.1:n.*1811C>A
NM_001395175.1:c.*1811C>A (CHRNA5) NP_001382104.1:n.*1811C>A