Canonical Allele Identifier: CA8347923
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3017927
ClinVar RCV Id: RCV003874526
dbSNP Id: rs761535567
gnomAD v2: 17-7357754-C-T
gnomAD v4: 17-7454435-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454435C>T , CM000679.2:g.7454435C>T GRCh38
NC_000017.10:g.7357754C>T , CM000679.1:g.7357754C>T GRCh37
NC_000017.9:g.7298478C>T NCBI36
NG_008026.1:g.14349C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.959C>T MANE Select ENSP00000304290.2:p.Thr320Ile
ENST00000306071.6:c.959C>T ENSP00000304290.2:p.Thr320Ile
ENST00000536404.6:c.743C>T ENSP00000439209.2:p.Thr248Ile
ENST00000570557.5:c.622C>T
ENST00000573209.1:n.1903C>T
ENST00000576360.1:c.605-9C>T ENSP00000459092.1:n.605-9C>T
NM_000747.2:c.959C>T NP_000738.2:p.Thr320Ile
NM_000747.3:c.959C>T MANE Select NP_000738.2:p.Thr320Ile