Canonical Allele Identifier: CA8347949
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs578007406
gnomAD v2: 17-7357874-C-T
gnomAD v4: 17-7454555-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454555C>T , CM000679.2:g.7454555C>T GRCh38
NC_000017.10:g.7357874C>T , CM000679.1:g.7357874C>T GRCh37
NC_000017.9:g.7298598C>T NCBI36
NG_008026.1:g.14469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+35C>T MANE Select ENSP00000304290.2:n.1044+35C>T
ENST00000306071.6:c.1044+35C>T ENSP00000304290.2:n.1044+35C>T
ENST00000536404.6:c.828+35C>T ENSP00000439209.2:n.828+35C>T
ENST00000570557.5:c.707+35C>T
ENST00000573209.1:n.1988+35C>T
ENST00000576360.1:c.681+35C>T ENSP00000459092.1:n.681+35C>T
NM_000747.2:c.1044+35C>T NP_000738.2:n.1044+35C>T
NM_000747.3:c.1044+35C>T MANE Select NP_000738.2:n.1044+35C>T