Canonical Allele Identifier: CA397797468
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454363A>T , CM000679.2:g.7454363A>T GRCh38
NC_000017.10:g.7357682A>T , CM000679.1:g.7357682A>T GRCh37
NC_000017.9:g.7298406A>T NCBI36
NG_008026.1:g.14277A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.887A>T MANE Select ENSP00000304290.2:p.Asp296Val
ENST00000306071.6:c.887A>T ENSP00000304290.2:p.Asp296Val
ENST00000536404.6:c.671A>T ENSP00000439209.2:p.Asp224Val
ENST00000570557.5:c.550A>T
ENST00000573209.1:n.1831A>T
ENST00000576360.1:c.605-81A>T ENSP00000459092.1:n.605-81A>T
NM_000747.2:c.887A>T NP_000738.2:p.Asp296Val
NM_000747.3:c.887A>T MANE Select NP_000738.2:p.Asp296Val