Canonical Allele Identifier: CA8347939

Gene: CHRNB1

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)

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