Canonical Allele Identifier: CA8347939
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 658338
ClinVar RCV Id: RCV000815146
dbSNP Id: rs371142002
ExAC: 17:7357835 G / A
gnomAD v2: 17-7357835-G-A
gnomAD v3: 17-7454516-G-A
gnomAD v4: 17-7454516-G-A
MyVariant Identifiers: chr17:g.7357835G>A (hg19) chr17:g.7454516G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454516G>A , CM000679.2:g.7454516G>A GRCh38
NC_000017.10:g.7357835G>A , CM000679.1:g.7357835G>A GRCh37
NC_000017.9:g.7298559G>A NCBI36
NG_008026.1:g.14430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1040G>A MANE Select ENSP00000304290.2:p.Arg347His
ENST00000306071.6:c.1040G>A ENSP00000304290.2:p.Arg347His
ENST00000536404.6:c.824G>A ENSP00000439209.2:p.Arg275His
ENST00000570557.5:c.703G>A
ENST00000573209.1:n.1984G>A
ENST00000576360.1:c.677G>A ENSP00000459092.1:p.Arg226His
NM_000747.2:c.1040G>A NP_000738.2:p.Arg347His
NM_000747.3:c.1040G>A MANE Select NP_000738.2:p.Arg347His
Search 100 bp 5'
Search 100 bp 3'