Canonical Allele Identifier: CA2245821840
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454350C= , CM000679.2:g.7454350C= GRCh38
NC_000017.10:g.7357669C= , CM000679.1:g.7357669C= GRCh37
NC_000017.9:g.7298393C= NCBI36
NG_008026.1:g.14264C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.874C= MANE Select ENSP00000304290.2:p.Leu292=
ENST00000306071.6:c.874C= ENSP00000304290.2:p.Leu292=
ENST00000536404.6:c.658C= ENSP00000439209.2:p.Leu220=
ENST00000570557.5:c.537C=
ENST00000573209.1:n.1818C=
ENST00000576360.1:c.605-94C= ENSP00000459092.1:n.605-94C=
NM_000747.2:c.874C= NP_000738.2:p.Leu292=
NM_000747.3:c.874C= MANE Select NP_000738.2:p.Leu292=