Canonical Allele Identifier: CA981192676
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1908983325
gnomAD v3: 17-7454054-C-G
gnomAD v4: 17-7454054-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454054C>G , CM000679.2:g.7454054C>G GRCh38
NC_000017.10:g.7357373C>G , CM000679.1:g.7357373C>G GRCh37
NC_000017.9:g.7298097C>G NCBI36
NG_008026.1:g.13968C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-243C>G MANE Select ENSP00000304290.2:n.821-243C>G
ENST00000306071.6:c.821-243C>G ENSP00000304290.2:n.821-243C>G
ENST00000536404.6:c.605-243C>G ENSP00000439209.2:n.605-243C>G
ENST00000570557.5:c.484-243C>G
ENST00000573209.1:n.1765-243C>G
ENST00000576360.1:c.605-390C>G ENSP00000459092.1:n.605-390C>G
NM_000747.2:c.821-243C>G NP_000738.2:n.821-243C>G
NM_000747.3:c.821-243C>G MANE Select NP_000738.2:n.821-243C>G
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