Canonical Allele Identifier: CA2635846700
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455783-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455783T>C , CM000679.2:g.7455783T>C GRCh38
NC_000017.10:g.7359102T>C , CM000679.1:g.7359102T>C GRCh37
NC_000017.9:g.7299826T>C NCBI36
NG_008026.1:g.15697T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1218-11T>C MANE Select ENSP00000304290.2:n.1218-11T>C
ENST00000306071.6:c.1218-11T>C ENSP00000304290.2:n.1218-11T>C
ENST00000536404.6:c.1002-11T>C ENSP00000439209.2:n.1002-11T>C
ENST00000570557.5:c.881-11T>C
ENST00000575379.1:c.-186T>C ENSP00000461751.1:n.-186T>C
ENST00000576360.1:c.855-11T>C ENSP00000459092.1:n.855-11T>C
NM_000747.2:c.1218-11T>C NP_000738.2:n.1218-11T>C
NM_000747.3:c.1218-11T>C MANE Select NP_000738.2:n.1218-11T>C
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