Canonical Allele Identifier: CA2576152198
Gene: CHRNB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454248T>C , CM000679.2:g.7454248T>C GRCh38
NC_000017.10:g.7357567T>C , CM000679.1:g.7357567T>C GRCh37
NC_000017.9:g.7298291T>C NCBI36
NG_008026.1:g.14162T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-49T>C MANE Select ENSP00000304290.2:n.821-49T>C
ENST00000306071.6:c.821-49T>C ENSP00000304290.2:n.821-49T>C
ENST00000536404.6:c.605-49T>C ENSP00000439209.2:n.605-49T>C
ENST00000570557.5:c.484-49T>C
ENST00000573209.1:n.1765-49T>C
ENST00000576360.1:c.605-196T>C ENSP00000459092.1:n.605-196T>C
NM_000747.2:c.821-49T>C NP_000738.2:n.821-49T>C
NM_000747.3:c.821-49T>C MANE Select NP_000738.2:n.821-49T>C
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