Canonical Allele Identifier: CA397801804
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455457G>C , CM000679.2:g.7455457G>C GRCh38
NC_000017.10:g.7358776G>C , CM000679.1:g.7358776G>C GRCh37
NC_000017.9:g.7299500G>C NCBI36
NG_008026.1:g.15371G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+1G>C MANE Select ENSP00000304290.2:n.1217+1G>C
ENST00000306071.6:c.1217+1G>C ENSP00000304290.2:n.1217+1G>C
ENST00000536404.6:c.1001+1G>C ENSP00000439209.2:n.1001+1G>C
ENST00000570557.5:c.880+1G>C
ENST00000573209.1:n.2162G>C
ENST00000576360.1:c.854+1G>C ENSP00000459092.1:n.854+1G>C
NM_000747.2:c.1217+1G>C NP_000738.2:n.1217+1G>C
NM_000747.3:c.1217+1G>C MANE Select NP_000738.2:n.1217+1G>C