Canonical Allele Identifier: CA397797699
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454390T>A , CM000679.2:g.7454390T>A GRCh38
NC_000017.10:g.7357709T>A , CM000679.1:g.7357709T>A GRCh37
NC_000017.9:g.7298433T>A NCBI36
NG_008026.1:g.14304T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.914T>A MANE Select ENSP00000304290.2:p.Val305Glu
ENST00000306071.6:c.914T>A ENSP00000304290.2:p.Val305Glu
ENST00000536404.6:c.698T>A ENSP00000439209.2:p.Val233Glu
ENST00000570557.5:c.577T>A
ENST00000573209.1:n.1858T>A
ENST00000576360.1:c.605-54T>A ENSP00000459092.1:n.605-54T>A
NM_000747.2:c.914T>A NP_000738.2:p.Val305Glu
NM_000747.3:c.914T>A MANE Select NP_000738.2:p.Val305Glu