Canonical Allele Identifier: CA397802645
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455888-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455888T>C , CM000679.2:g.7455888T>C GRCh38
NC_000017.10:g.7359207T>C , CM000679.1:g.7359207T>C GRCh37
NC_000017.9:g.7299931T>C NCBI36
NG_008026.1:g.15802T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1312T>C MANE Select ENSP00000304290.2:p.Ser438Pro
ENST00000306071.6:c.1312T>C ENSP00000304290.2:p.Ser438Pro
ENST00000536404.6:c.1096T>C ENSP00000439209.2:p.Ser366Pro
ENST00000575379.1:c.-81T>C ENSP00000461751.1:n.-81T>C
ENST00000576360.1:c.949T>C ENSP00000459092.1:p.Ser317Pro
NM_000747.2:c.1312T>C NP_000738.2:p.Ser438Pro
NM_000747.3:c.1312T>C MANE Select NP_000738.2:p.Ser438Pro