Canonical Allele Identifier: CA8347980
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440032
ClinVar RCV Id: RCV003144932
dbSNP Id: rs759408729
ExAC: 17:7358668 G / A
gnomAD v2: 17-7358668-G-A
gnomAD v4: 17-7455349-G-A
MyVariant Identifiers: chr17:g.7358668G>A (hg19) chr17:g.7455349G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455349G>A , CM000679.2:g.7455349G>A GRCh38
NC_000017.10:g.7358668G>A , CM000679.1:g.7358668G>A GRCh37
NC_000017.9:g.7299392G>A NCBI36
NG_008026.1:g.15263G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1110G>A MANE Select ENSP00000304290.2:p.Met370Ile
ENST00000306071.6:c.1110G>A ENSP00000304290.2:p.Met370Ile
ENST00000536404.6:c.894G>A ENSP00000439209.2:p.Met298Ile
ENST00000570557.5:c.773G>A
ENST00000573209.1:n.2054G>A
ENST00000576360.1:c.747G>A ENSP00000459092.1:p.Met249Ile
NM_000747.2:c.1110G>A NP_000738.2:p.Met370Ile
NM_000747.3:c.1110G>A MANE Select NP_000738.2:p.Met370Ile
Search 100 bp 5'
Search 100 bp 3'