Canonical Allele Identifier: CA2635846354
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454652-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454652C>A , CM000679.2:g.7454652C>A GRCh38
NC_000017.10:g.7357971C>A , CM000679.1:g.7357971C>A GRCh37
NC_000017.9:g.7298695C>A NCBI36
NG_008026.1:g.14566C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+132C>A MANE Select ENSP00000304290.2:n.1044+132C>A
ENST00000306071.6:c.1044+132C>A ENSP00000304290.2:n.1044+132C>A
ENST00000536404.6:c.828+132C>A ENSP00000439209.2:n.828+132C>A
ENST00000570557.5:c.707+132C>A
ENST00000573209.1:n.1988+132C>A
ENST00000576360.1:c.681+132C>A ENSP00000459092.1:n.681+132C>A
NM_000747.2:c.1044+132C>A NP_000738.2:n.1044+132C>A
NM_000747.3:c.1044+132C>A MANE Select NP_000738.2:n.1044+132C>A
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