Canonical Allele Identifier: CA2245821794
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1380921256
gnomAD v4: 17-7454249-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454249T>A , CM000679.2:g.7454249T>A GRCh38
NC_000017.10:g.7357568T>A , CM000679.1:g.7357568T>A GRCh37
NC_000017.9:g.7298292T>A NCBI36
NG_008026.1:g.14163T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-48T>A MANE Select ENSP00000304290.2:n.821-48T>A
ENST00000306071.6:c.821-48T>A ENSP00000304290.2:n.821-48T>A
ENST00000536404.6:c.605-48T>A ENSP00000439209.2:n.605-48T>A
ENST00000570557.5:c.484-48T>A
ENST00000573209.1:n.1765-48T>A
ENST00000576360.1:c.605-195T>A ENSP00000459092.1:n.605-195T>A
NM_000747.2:c.821-48T>A NP_000738.2:n.821-48T>A
NM_000747.3:c.821-48T>A MANE Select NP_000738.2:n.821-48T>A