Canonical Allele Identifier: CA2245821786
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1908989936
gnomAD v4: 17-7454239-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454239C>T , CM000679.2:g.7454239C>T GRCh38
NC_000017.10:g.7357558C>T , CM000679.1:g.7357558C>T GRCh37
NC_000017.9:g.7298282C>T NCBI36
NG_008026.1:g.14153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-58C>T MANE Select ENSP00000304290.2:n.821-58C>T
ENST00000306071.6:c.821-58C>T ENSP00000304290.2:n.821-58C>T
ENST00000536404.6:c.605-58C>T ENSP00000439209.2:n.605-58C>T
ENST00000570557.5:c.484-58C>T
ENST00000573209.1:n.1765-58C>T
ENST00000576360.1:c.605-205C>T ENSP00000459092.1:n.605-205C>T
NM_000747.2:c.821-58C>T NP_000738.2:n.821-58C>T
NM_000747.3:c.821-58C>T MANE Select NP_000738.2:n.821-58C>T
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