Canonical Allele Identifier: CA2635847048
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455996-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455996C>G , CM000679.2:g.7455996C>G GRCh38
NC_000017.10:g.7359315C>G , CM000679.1:g.7359315C>G GRCh37
NC_000017.9:g.7300039C>G NCBI36
NG_008026.1:g.15910C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1365+55C>G MANE Select ENSP00000304290.2:n.1365+55C>G
ENST00000306071.6:c.1365+55C>G ENSP00000304290.2:n.1365+55C>G
ENST00000536404.6:c.1149+55C>G ENSP00000439209.2:n.1149+55C>G
ENST00000575379.1:c.-28+55C>G ENSP00000461751.1:n.-28+55C>G
ENST00000576360.1:c.1002+55C>G ENSP00000459092.1:n.1002+55C>G
NM_000747.2:c.1365+55C>G NP_000738.2:n.1365+55C>G
NM_000747.3:c.1365+55C>G MANE Select NP_000738.2:n.1365+55C>G
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