Canonical Allele Identifier: CA287432420

Gene: CHRNB1

Linked Data

• dbSNP Id: rs947458326
• gnomAD v4: 17-7455770-C-T
• MyVariant Identifiers: chr17:g.7359089C>T (hg19) ; chr17:g.7455770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455770C>T , CM000679.2:g.7455770C>T	GRCh38
NC_000017.10:g.7359089C>T , CM000679.1:g.7359089C>T	GRCh37
NC_000017.9:g.7299813C>T	NCBI36
NG_008026.1:g.15684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1218-24C>T MANE Select	ENSP00000304290.2:n.1218-24C>T
ENST00000306071.6:c.1218-24C>T	ENSP00000304290.2:n.1218-24C>T
ENST00000536404.6:c.1002-24C>T	ENSP00000439209.2:n.1002-24C>T
ENST00000570557.5:c.881-24C>T
ENST00000575379.1:c.-199C>T	ENSP00000461751.1:n.-199C>T
ENST00000576360.1:c.855-24C>T	ENSP00000459092.1:n.855-24C>T
NM_000747.2:c.1218-24C>T	NP_000738.2:n.1218-24C>T
NM_000747.3:c.1218-24C>T MANE Select	NP_000738.2:n.1218-24C>T