Canonical Allele Identifier: CA2635846264
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454479-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454480del , CM000679.2:g.7454480del GRCh38
NC_000017.10:g.7357799del , CM000679.1:g.7357799del GRCh37
NC_000017.9:g.7298523del NCBI36
NG_008026.1:g.14394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1004del MANE Select ENSP00000304290.2:p.Arg335ProfsTer26
ENST00000306071.6:c.1004del ENSP00000304290.2:p.Arg335ProfsTer26
ENST00000536404.6:c.788del ENSP00000439209.2:p.Arg263ProfsTer26
ENST00000570557.5:c.667del
ENST00000573209.1:n.1948del
ENST00000576360.1:c.641del ENSP00000459092.1:p.Arg214ProfsTer26
NM_000747.2:c.1004del NP_000738.2:p.Arg335ProfsTer26
NM_000747.3:c.1004del MANE Select NP_000738.2:p.Arg335ProfsTer26
Search 100 bp 5'
Search 100 bp 3'