Canonical Allele Identifier: CA497745003
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1236106813
gnomAD v2: 17-7359195-C-A
gnomAD v4: 17-7455876-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455876C>A , CM000679.2:g.7455876C>A GRCh38
NC_000017.10:g.7359195C>A , CM000679.1:g.7359195C>A GRCh37
NC_000017.9:g.7299919C>A NCBI36
NG_008026.1:g.15790C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1300C>A MANE Select ENSP00000304290.2:p.Arg434=
ENST00000306071.6:c.1300C>A ENSP00000304290.2:p.Arg434=
ENST00000536404.6:c.1084C>A ENSP00000439209.2:p.Arg362=
ENST00000575379.1:c.-93C>A ENSP00000461751.1:n.-93C>A
ENST00000576360.1:c.937C>A ENSP00000459092.1:p.Arg313=
NM_000747.2:c.1300C>A NP_000738.2:p.Arg434=
NM_000747.3:c.1300C>A MANE Select NP_000738.2:p.Arg434=