Canonical Allele Identifier: CA8348031
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs750141309
ExAC: 17:7359196 G / A
gnomAD v2: 17-7359196-G-A
gnomAD v3: 17-7455877-G-A
gnomAD v4: 17-7455877-G-A
MyVariant Identifiers: chr17:g.7359196G>A (hg19) chr17:g.7455877G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455877G>A , CM000679.2:g.7455877G>A GRCh38
NC_000017.10:g.7359196G>A , CM000679.1:g.7359196G>A GRCh37
NC_000017.9:g.7299920G>A NCBI36
NG_008026.1:g.15791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1301G>A MANE Select ENSP00000304290.2:p.Arg434Gln
ENST00000306071.6:c.1301G>A ENSP00000304290.2:p.Arg434Gln
ENST00000536404.6:c.1085G>A ENSP00000439209.2:p.Arg362Gln
ENST00000575379.1:c.-92G>A ENSP00000461751.1:n.-92G>A
ENST00000576360.1:c.938G>A ENSP00000459092.1:p.Arg313Gln
NM_000747.2:c.1301G>A NP_000738.2:p.Arg434Gln
NM_000747.3:c.1301G>A MANE Select NP_000738.2:p.Arg434Gln
Search 100 bp 5'
Search 100 bp 3'