Canonical Allele Identifier: CA397800755
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1173548805
gnomAD v2: 17-7358673-A-G
gnomAD v4: 17-7455354-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455354A>G , CM000679.2:g.7455354A>G GRCh38
NC_000017.10:g.7358673A>G , CM000679.1:g.7358673A>G GRCh37
NC_000017.9:g.7299397A>G NCBI36
NG_008026.1:g.15268A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1115A>G MANE Select ENSP00000304290.2:p.Glu372Gly
ENST00000306071.6:c.1115A>G ENSP00000304290.2:p.Glu372Gly
ENST00000536404.6:c.899A>G ENSP00000439209.2:p.Glu300Gly
ENST00000570557.5:c.778A>G
ENST00000573209.1:n.2059A>G
ENST00000576360.1:c.752A>G ENSP00000459092.1:p.Glu251Gly
NM_000747.2:c.1115A>G NP_000738.2:p.Glu372Gly
NM_000747.3:c.1115A>G MANE Select NP_000738.2:p.Glu372Gly