Canonical Allele Identifier: CA397800840
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455363-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455363A>G , CM000679.2:g.7455363A>G GRCh38
NC_000017.10:g.7358682A>G , CM000679.1:g.7358682A>G GRCh37
NC_000017.9:g.7299406A>G NCBI36
NG_008026.1:g.15277A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1124A>G MANE Select ENSP00000304290.2:p.His375Arg
ENST00000306071.6:c.1124A>G ENSP00000304290.2:p.His375Arg
ENST00000536404.6:c.908A>G ENSP00000439209.2:p.His303Arg
ENST00000570557.5:c.787A>G
ENST00000573209.1:n.2068A>G
ENST00000576360.1:c.761A>G ENSP00000459092.1:p.His254Arg
NM_000747.2:c.1124A>G NP_000738.2:p.His375Arg
NM_000747.3:c.1124A>G MANE Select NP_000738.2:p.His375Arg