Canonical Allele Identifier: CA8347892
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs773696133
ExAC: 17:7357575 A / C
gnomAD v2: 17-7357575-A-C
gnomAD v4: 17-7454256-A-C
MyVariant Identifiers: chr17:g.7357575A>C (hg19) chr17:g.7454256A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454256A>C , CM000679.2:g.7454256A>C GRCh38
NC_000017.10:g.7357575A>C , CM000679.1:g.7357575A>C GRCh37
NC_000017.9:g.7298299A>C NCBI36
NG_008026.1:g.14170A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-41A>C MANE Select ENSP00000304290.2:n.821-41A>C
ENST00000306071.6:c.821-41A>C ENSP00000304290.2:n.821-41A>C
ENST00000536404.6:c.605-41A>C ENSP00000439209.2:n.605-41A>C
ENST00000570557.5:c.484-41A>C
ENST00000573209.1:n.1765-41A>C
ENST00000576360.1:c.605-188A>C ENSP00000459092.1:n.605-188A>C
NM_000747.2:c.821-41A>C NP_000738.2:n.821-41A>C
NM_000747.3:c.821-41A>C MANE Select NP_000738.2:n.821-41A>C
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