Canonical Allele Identifier: CA397797430
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454354T>G , CM000679.2:g.7454354T>G GRCh38
NC_000017.10:g.7357673T>G , CM000679.1:g.7357673T>G GRCh37
NC_000017.9:g.7298397T>G NCBI36
NG_008026.1:g.14268T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.878T>G MANE Select ENSP00000304290.2:p.Leu293Arg
ENST00000306071.6:c.878T>G ENSP00000304290.2:p.Leu293Arg
ENST00000536404.6:c.662T>G ENSP00000439209.2:p.Leu221Arg
ENST00000570557.5:c.541T>G
ENST00000573209.1:n.1822T>G
ENST00000576360.1:c.605-90T>G ENSP00000459092.1:n.605-90T>G
NM_000747.2:c.878T>G NP_000738.2:p.Leu293Arg
NM_000747.3:c.878T>G MANE Select NP_000738.2:p.Leu293Arg