Canonical Allele Identifier: CA2245821902
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454514C= , CM000679.2:g.7454514C= GRCh38
NC_000017.10:g.7357833C= , CM000679.1:g.7357833C= GRCh37
NC_000017.9:g.7298557C= NCBI36
NG_008026.1:g.14428C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1038C= MANE Select ENSP00000304290.2:p.Val346=
ENST00000306071.6:c.1038C= ENSP00000304290.2:p.Val346=
ENST00000536404.6:c.822C= ENSP00000439209.2:p.Val274=
ENST00000570557.5:c.701C=
ENST00000573209.1:n.1982C=
ENST00000576360.1:c.675C= ENSP00000459092.1:p.Val225=
NM_000747.2:c.1038C= NP_000738.2:p.Val346=
NM_000747.3:c.1038C= MANE Select NP_000738.2:p.Val346=