Canonical Allele Identifier: CA8348032
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs758114657
gnomAD v2: 17-7359199-A-G
gnomAD v4: 17-7455880-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455880A>G , CM000679.2:g.7455880A>G GRCh38
NC_000017.10:g.7359199A>G , CM000679.1:g.7359199A>G GRCh37
NC_000017.9:g.7299923A>G NCBI36
NG_008026.1:g.15794A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1304A>G MANE Select ENSP00000304290.2:p.Glu435Gly
ENST00000306071.6:c.1304A>G ENSP00000304290.2:p.Glu435Gly
ENST00000536404.6:c.1088A>G ENSP00000439209.2:p.Glu363Gly
ENST00000575379.1:c.-89A>G ENSP00000461751.1:n.-89A>G
ENST00000576360.1:c.941A>G ENSP00000459092.1:p.Glu314Gly
NM_000747.2:c.1304A>G NP_000738.2:p.Glu435Gly
NM_000747.3:c.1304A>G MANE Select NP_000738.2:p.Glu435Gly