Canonical Allele Identifier: CA2245822406
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2069941236
gnomAD v4: 17-7455577-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455577T>C , CM000679.2:g.7455577T>C GRCh38
NC_000017.10:g.7358896T>C , CM000679.1:g.7358896T>C GRCh37
NC_000017.9:g.7299620T>C NCBI36
NG_008026.1:g.15491T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+121T>C MANE Select ENSP00000304290.2:n.1217+121T>C
ENST00000306071.6:c.1217+121T>C ENSP00000304290.2:n.1217+121T>C
ENST00000536404.6:c.1001+121T>C ENSP00000439209.2:n.1001+121T>C
ENST00000570557.5:c.880+121T>C
ENST00000573209.1:n.2282T>C
ENST00000576360.1:c.854+121T>C ENSP00000459092.1:n.854+121T>C
NM_000747.2:c.1217+121T>C NP_000738.2:n.1217+121T>C
NM_000747.3:c.1217+121T>C MANE Select NP_000738.2:n.1217+121T>C
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