Canonical Allele Identifier: CA2245822402
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2069941184
gnomAD v4: 17-7455572-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455572A>C , CM000679.2:g.7455572A>C GRCh38
NC_000017.10:g.7358891A>C , CM000679.1:g.7358891A>C GRCh37
NC_000017.9:g.7299615A>C NCBI36
NG_008026.1:g.15486A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+116A>C MANE Select ENSP00000304290.2:n.1217+116A>C
ENST00000306071.6:c.1217+116A>C ENSP00000304290.2:n.1217+116A>C
ENST00000536404.6:c.1001+116A>C ENSP00000439209.2:n.1001+116A>C
ENST00000570557.5:c.880+116A>C
ENST00000573209.1:n.2277A>C
ENST00000576360.1:c.854+116A>C ENSP00000459092.1:n.854+116A>C
NM_000747.2:c.1217+116A>C NP_000738.2:n.1217+116A>C
NM_000747.3:c.1217+116A>C MANE Select NP_000738.2:n.1217+116A>C
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