Canonical Allele Identifier: CA774957471
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1394834682
gnomAD v3: 17-7455760-T-G
gnomAD v4: 17-7455760-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455760T>G , CM000679.2:g.7455760T>G GRCh38
NC_000017.10:g.7359079T>G , CM000679.1:g.7359079T>G GRCh37
NC_000017.9:g.7299803T>G NCBI36
NG_008026.1:g.15674T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1218-34T>G MANE Select ENSP00000304290.2:n.1218-34T>G
ENST00000306071.6:c.1218-34T>G ENSP00000304290.2:n.1218-34T>G
ENST00000536404.6:c.1002-34T>G ENSP00000439209.2:n.1002-34T>G
ENST00000570557.5:c.881-34T>G
ENST00000575379.1:c.-209T>G ENSP00000461751.1:n.-209T>G
ENST00000576360.1:c.855-34T>G ENSP00000459092.1:n.855-34T>G
NM_000747.2:c.1218-34T>G NP_000738.2:n.1218-34T>G
NM_000747.3:c.1218-34T>G MANE Select NP_000738.2:n.1218-34T>G