Canonical Allele Identifier: CA624863707
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1278470965
gnomAD v2: 17-7359088-G-C
gnomAD v3: 17-7455769-G-C
gnomAD v4: 17-7455769-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455769G>C , CM000679.2:g.7455769G>C GRCh38
NC_000017.10:g.7359088G>C , CM000679.1:g.7359088G>C GRCh37
NC_000017.9:g.7299812G>C NCBI36
NG_008026.1:g.15683G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1218-25G>C MANE Select ENSP00000304290.2:n.1218-25G>C
ENST00000306071.6:c.1218-25G>C ENSP00000304290.2:n.1218-25G>C
ENST00000536404.6:c.1002-25G>C ENSP00000439209.2:n.1002-25G>C
ENST00000570557.5:c.881-25G>C
ENST00000575379.1:c.-200G>C ENSP00000461751.1:n.-200G>C
ENST00000576360.1:c.855-25G>C ENSP00000459092.1:n.855-25G>C
NM_000747.2:c.1218-25G>C NP_000738.2:n.1218-25G>C
NM_000747.3:c.1218-25G>C MANE Select NP_000738.2:n.1218-25G>C