Canonical Allele Identifier: CA397798989
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454518C>T , CM000679.2:g.7454518C>T GRCh38
NC_000017.10:g.7357837C>T , CM000679.1:g.7357837C>T GRCh37
NC_000017.9:g.7298561C>T NCBI36
NG_008026.1:g.14432C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1042C>T MANE Select ENSP00000304290.2:p.Gln348Ter
ENST00000306071.6:c.1042C>T ENSP00000304290.2:p.Gln348Ter
ENST00000536404.6:c.826C>T ENSP00000439209.2:p.Gln276Ter
ENST00000570557.5:c.705C>T
ENST00000573209.1:n.1986C>T
ENST00000576360.1:c.679C>T ENSP00000459092.1:p.Gln227Ter
NM_000747.2:c.1042C>T NP_000738.2:p.Gln348Ter
NM_000747.3:c.1042C>T MANE Select NP_000738.2:p.Gln348Ter