Canonical Allele Identifier: CA2245822644
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2069946436
gnomAD v4: 17-7455988-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455988C>T , CM000679.2:g.7455988C>T GRCh38
NC_000017.10:g.7359307C>T , CM000679.1:g.7359307C>T GRCh37
NC_000017.9:g.7300031C>T NCBI36
NG_008026.1:g.15902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1365+47C>T MANE Select ENSP00000304290.2:n.1365+47C>T
ENST00000306071.6:c.1365+47C>T ENSP00000304290.2:n.1365+47C>T
ENST00000536404.6:c.1149+47C>T ENSP00000439209.2:n.1149+47C>T
ENST00000575379.1:c.-28+47C>T ENSP00000461751.1:n.-28+47C>T
ENST00000576360.1:c.1002+47C>T ENSP00000459092.1:n.1002+47C>T
NM_000747.2:c.1365+47C>T NP_000738.2:n.1365+47C>T
NM_000747.3:c.1365+47C>T MANE Select NP_000738.2:n.1365+47C>T
Search 100 bp 5'
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