Canonical Allele Identifier: CA1130793
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 507104
ClinVar RCV Id: RCV000611022
dbSNP Id: rs748080172
ExAC: 1:154544211 C / A
gnomAD v2: 1-154544211-C-A
gnomAD v3: 1-154571735-C-A
gnomAD v4: 1-154571735-C-A
MyVariant Identifiers: chr1:g.154544211C>A (hg19) chr1:g.154571735C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571735C>A , CM000663.2:g.154571735C>A GRCh38
NC_000001.10:g.154544211C>A , CM000663.1:g.154544211C>A GRCh37
NC_000001.9:g.152810835C>A NCBI36
NG_008027.1:g.8955C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.912C>A MANE Select ENSP00000357461.3:p.Thr304=
ENST00000636034.1:c.912C>A ENSP00000489703.1:p.Thr304=
ENST00000637900.1:c.918C>A ENSP00000490474.1:p.Thr306=
ENST00000368476.3:c.912C>A ENSP00000357461.3:p.Thr304=
NM_000748.2:c.912C>A NP_000739.1:p.Thr304=
XM_017000180.2:c.402C>A XP_016855669.1:p.Thr134=
XR_001736952.2:n.1164C>A
NM_000748.3:c.912C>A MANE Select NP_000739.1:p.Thr304=
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