Canonical Allele Identifier: CA397800720
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455350C>A , CM000679.2:g.7455350C>A GRCh38
NC_000017.10:g.7358669C>A , CM000679.1:g.7358669C>A GRCh37
NC_000017.9:g.7299393C>A NCBI36
NG_008026.1:g.15264C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1111C>A MANE Select ENSP00000304290.2:p.Pro371Thr
ENST00000306071.6:c.1111C>A ENSP00000304290.2:p.Pro371Thr
ENST00000536404.6:c.895C>A ENSP00000439209.2:p.Pro299Thr
ENST00000570557.5:c.774C>A
ENST00000573209.1:n.2055C>A
ENST00000576360.1:c.748C>A ENSP00000459092.1:p.Pro250Thr
NM_000747.2:c.1111C>A NP_000738.2:p.Pro371Thr
NM_000747.3:c.1111C>A MANE Select NP_000738.2:p.Pro371Thr