Canonical Allele Identifier: CA397797369
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454344T>A , CM000679.2:g.7454344T>A GRCh38
NC_000017.10:g.7357663T>A , CM000679.1:g.7357663T>A GRCh37
NC_000017.9:g.7298387T>A NCBI36
NG_008026.1:g.14258T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.868T>A MANE Select ENSP00000304290.2:p.Phe290Ile
ENST00000306071.6:c.868T>A ENSP00000304290.2:p.Phe290Ile
ENST00000536404.6:c.652T>A ENSP00000439209.2:p.Phe218Ile
ENST00000570557.5:c.531T>A
ENST00000573209.1:n.1812T>A
ENST00000576360.1:c.605-100T>A ENSP00000459092.1:n.605-100T>A
NM_000747.2:c.868T>A NP_000738.2:p.Phe290Ile
NM_000747.3:c.868T>A MANE Select NP_000738.2:p.Phe290Ile