Canonical Allele Identifier: CA981193626
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2069941283
gnomAD v3: 17-7455582-C-A
gnomAD v4: 17-7455582-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455582C>A , CM000679.2:g.7455582C>A GRCh38
NC_000017.10:g.7358901C>A , CM000679.1:g.7358901C>A GRCh37
NC_000017.9:g.7299625C>A NCBI36
NG_008026.1:g.15496C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+126C>A MANE Select ENSP00000304290.2:n.1217+126C>A
ENST00000306071.6:c.1217+126C>A ENSP00000304290.2:n.1217+126C>A
ENST00000536404.6:c.1001+126C>A ENSP00000439209.2:n.1001+126C>A
ENST00000570557.5:c.880+126C>A
ENST00000573209.1:n.2287C>A
ENST00000576360.1:c.854+126C>A ENSP00000459092.1:n.854+126C>A
NM_000747.2:c.1217+126C>A NP_000738.2:n.1217+126C>A
NM_000747.3:c.1217+126C>A MANE Select NP_000738.2:n.1217+126C>A
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