Canonical Allele Identifier: CA287431308
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1024392634
gnomAD v2: 17-7357860-C-T
gnomAD v4: 17-7454541-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454541C>T , CM000679.2:g.7454541C>T GRCh38
NC_000017.10:g.7357860C>T , CM000679.1:g.7357860C>T GRCh37
NC_000017.9:g.7298584C>T NCBI36
NG_008026.1:g.14455C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+21C>T MANE Select ENSP00000304290.2:n.1044+21C>T
ENST00000306071.6:c.1044+21C>T ENSP00000304290.2:n.1044+21C>T
ENST00000536404.6:c.828+21C>T ENSP00000439209.2:n.828+21C>T
ENST00000570557.5:c.707+21C>T
ENST00000573209.1:n.1988+21C>T
ENST00000576360.1:c.681+21C>T ENSP00000459092.1:n.681+21C>T
NM_000747.2:c.1044+21C>T NP_000738.2:n.1044+21C>T
NM_000747.3:c.1044+21C>T MANE Select NP_000738.2:n.1044+21C>T