Canonical Allele Identifier: CA8348018

Gene: CHRNB1

Linked Data

• dbSNP Id: rs747023810
• ExAC: 17:7359109 C / T
• gnomAD v2: 17-7359109-C-T
• gnomAD v4: 17-7455790-C-T
• MyVariant Identifiers: chr17:g.7359109C>T (hg19) ; chr17:g.7455790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455790C>T , CM000679.2:g.7455790C>T	GRCh38
NC_000017.10:g.7359109C>T , CM000679.1:g.7359109C>T	GRCh37
NC_000017.9:g.7299833C>T	NCBI36
NG_008026.1:g.15704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1218-4C>T MANE Select	ENSP00000304290.2:n.1218-4C>T
ENST00000306071.6:c.1218-4C>T	ENSP00000304290.2:n.1218-4C>T
ENST00000536404.6:c.1002-4C>T	ENSP00000439209.2:n.1002-4C>T
ENST00000570557.5:c.881-4C>T
ENST00000575379.1:c.-179C>T	ENSP00000461751.1:n.-179C>T
ENST00000576360.1:c.855-4C>T	ENSP00000459092.1:n.855-4C>T
NM_000747.2:c.1218-4C>T	NP_000738.2:n.1218-4C>T
NM_000747.3:c.1218-4C>T MANE Select	NP_000738.2:n.1218-4C>T