Canonical Allele Identifier: CA8347984
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs765354765
ExAC: 17:7358675 C / A
gnomAD v2: 17-7358675-C-A
gnomAD v4: 17-7455356-C-A
MyVariant Identifiers: chr17:g.7358675C>A (hg19) chr17:g.7455356C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455356C>A , CM000679.2:g.7455356C>A GRCh38
NC_000017.10:g.7358675C>A , CM000679.1:g.7358675C>A GRCh37
NC_000017.9:g.7299399C>A NCBI36
NG_008026.1:g.15270C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1117C>A MANE Select ENSP00000304290.2:p.Pro373Thr
ENST00000306071.6:c.1117C>A ENSP00000304290.2:p.Pro373Thr
ENST00000536404.6:c.901C>A ENSP00000439209.2:p.Pro301Thr
ENST00000570557.5:c.780C>A
ENST00000573209.1:n.2061C>A
ENST00000576360.1:c.754C>A ENSP00000459092.1:p.Pro252Thr
NM_000747.2:c.1117C>A NP_000738.2:p.Pro373Thr
NM_000747.3:c.1117C>A MANE Select NP_000738.2:p.Pro373Thr
Search 100 bp 5'
Search 100 bp 3'