Canonical Allele Identifier: CA397798807
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454494C>A , CM000679.2:g.7454494C>A GRCh38
NC_000017.10:g.7357813C>A , CM000679.1:g.7357813C>A GRCh37
NC_000017.9:g.7298537C>A NCBI36
NG_008026.1:g.14408C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1018C>A MANE Select ENSP00000304290.2:p.His340Asn
ENST00000306071.6:c.1018C>A ENSP00000304290.2:p.His340Asn
ENST00000536404.6:c.802C>A ENSP00000439209.2:p.His268Asn
ENST00000570557.5:c.681C>A
ENST00000573209.1:n.1962C>A
ENST00000576360.1:c.655C>A ENSP00000459092.1:p.His219Asn
NM_000747.2:c.1018C>A NP_000738.2:p.His340Asn
NM_000747.3:c.1018C>A MANE Select NP_000738.2:p.His340Asn