Canonical Allele Identifier: CA8348017
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 702549
ClinVar RCV Id: RCV000871666
dbSNP Id: rs779852242
ExAC: 17:7359106 C / T
gnomAD v2: 17-7359106-C-T
gnomAD v3: 17-7455787-C-T
gnomAD v4: 17-7455787-C-T
MyVariant Identifiers: chr17:g.7359106C>T (hg19) chr17:g.7455787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455787C>T , CM000679.2:g.7455787C>T GRCh38
NC_000017.10:g.7359106C>T , CM000679.1:g.7359106C>T GRCh37
NC_000017.9:g.7299830C>T NCBI36
NG_008026.1:g.15701C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1218-7C>T MANE Select ENSP00000304290.2:n.1218-7C>T
ENST00000306071.6:c.1218-7C>T ENSP00000304290.2:n.1218-7C>T
ENST00000536404.6:c.1002-7C>T ENSP00000439209.2:n.1002-7C>T
ENST00000570557.5:c.881-7C>T
ENST00000575379.1:c.-182C>T ENSP00000461751.1:n.-182C>T
ENST00000576360.1:c.855-7C>T ENSP00000459092.1:n.855-7C>T
NM_000747.2:c.1218-7C>T NP_000738.2:n.1218-7C>T
NM_000747.3:c.1218-7C>T MANE Select NP_000738.2:n.1218-7C>T
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