Canonical Allele Identifier: CA8347938
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2717508
ClinVar RCV Id: RCV003590686
dbSNP Id: rs201913823
ExAC: 17:7357834 C / T
gnomAD v2: 17-7357834-C-T
gnomAD v3: 17-7454515-C-T
gnomAD v4: 17-7454515-C-T
MyVariant Identifiers: chr17:g.7357834C>T (hg19) chr17:g.7454515C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454515C>T , CM000679.2:g.7454515C>T GRCh38
NC_000017.10:g.7357834C>T , CM000679.1:g.7357834C>T GRCh37
NC_000017.9:g.7298558C>T NCBI36
NG_008026.1:g.14429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1039C>T MANE Select ENSP00000304290.2:p.Arg347Cys
ENST00000306071.6:c.1039C>T ENSP00000304290.2:p.Arg347Cys
ENST00000536404.6:c.823C>T ENSP00000439209.2:p.Arg275Cys
ENST00000570557.5:c.702C>T
ENST00000573209.1:n.1983C>T
ENST00000576360.1:c.676C>T ENSP00000459092.1:p.Arg226Cys
NM_000747.2:c.1039C>T NP_000738.2:p.Arg347Cys
NM_000747.3:c.1039C>T MANE Select NP_000738.2:p.Arg347Cys
Search 100 bp 5'
Search 100 bp 3'