Canonical Allele Identifier: CA397802611
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455877-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455877G>C , CM000679.2:g.7455877G>C GRCh38
NC_000017.10:g.7359196G>C , CM000679.1:g.7359196G>C GRCh37
NC_000017.9:g.7299920G>C NCBI36
NG_008026.1:g.15791G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1301G>C MANE Select ENSP00000304290.2:p.Arg434Pro
ENST00000306071.6:c.1301G>C ENSP00000304290.2:p.Arg434Pro
ENST00000536404.6:c.1085G>C ENSP00000439209.2:p.Arg362Pro
ENST00000575379.1:c.-92G>C ENSP00000461751.1:n.-92G>C
ENST00000576360.1:c.938G>C ENSP00000459092.1:p.Arg313Pro
NM_000747.2:c.1301G>C NP_000738.2:p.Arg434Pro
NM_000747.3:c.1301G>C MANE Select NP_000738.2:p.Arg434Pro