Canonical Allele Identifier: CA397800684

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7358664T>G (hg19) ; chr17:g.7455345T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455345T>G , CM000679.2:g.7455345T>G	GRCh38
NC_000017.10:g.7358664T>G , CM000679.1:g.7358664T>G	GRCh37
NC_000017.9:g.7299388T>G	NCBI36
NG_008026.1:g.15259T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1106T>G MANE Select	ENSP00000304290.2:p.Leu369Arg
ENST00000306071.6:c.1106T>G	ENSP00000304290.2:p.Leu369Arg
ENST00000536404.6:c.890T>G	ENSP00000439209.2:p.Leu297Arg
ENST00000570557.5:c.769T>G
ENST00000573209.1:n.2050T>G
ENST00000576360.1:c.743T>G	ENSP00000459092.1:p.Leu248Arg
NM_000747.2:c.1106T>G	NP_000738.2:p.Leu369Arg
NM_000747.3:c.1106T>G MANE Select	NP_000738.2:p.Leu369Arg