Canonical Allele Identifier: CA1130797
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 954350
ClinVar RCV Id: RCV001226794
dbSNP Id: rs770557644
ExAC: 1:154544236 G / A
gnomAD v4: 1-154571760-G-A
COSMIC: COSM2154212
MyVariant Identifiers: chr1:g.154544236G>A (hg19) chr1:g.154571760G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571760G>A , CM000663.2:g.154571760G>A GRCh38
NC_000001.10:g.154544236G>A , CM000663.1:g.154544236G>A GRCh37
NC_000001.9:g.152810860G>A NCBI36
NG_008027.1:g.8980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.937G>A MANE Select ENSP00000357461.3:p.Val313Ile
ENST00000636034.1:c.937G>A ENSP00000489703.1:p.Val313Ile
ENST00000637900.1:c.943G>A ENSP00000490474.1:p.Val315Ile
ENST00000368476.3:c.937G>A ENSP00000357461.3:p.Val313Ile
NM_000748.2:c.937G>A NP_000739.1:p.Val313Ile
XM_017000180.2:c.427G>A XP_016855669.1:p.Val143Ile
XR_001736952.2:n.1189G>A
NM_000748.3:c.937G>A MANE Select NP_000739.1:p.Val313Ile
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