Canonical Allele Identifier: CA4734081
Gene: CHRNB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.42732516G>C
GRCh37 chr8:g.42587659G>C
gnomAD v2:
8:42587659 G / C
gnomAD v3:
8:42732516 G / C
gnomAD v4:
chr8-42732516-G-C
Joint Max Group AF 0.09960444 (MID)
Genomes Max Group AF 0.07167997 (SAS)
Exomes Max Group AF 0.09948256 (MID)
dbSNP:
4953
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732516G>C , CM000670.2:g.42732516G>C GRCh38
NC_000008.10:g.42587659G>C , CM000670.1:g.42587659G>C GRCh37
NC_000008.9:g.42706816G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1209G>C MANE Select ENSP00000289957.2:p.Ser403=
ENST00000289957.2:c.1209G>C ENSP00000289957.2:p.Ser403=
NM_000749.3:c.1209G>C NP_000740.1:p.Ser403=
XM_011544390.1:c.822G>C XP_011542692.1:p.Ser274=
NM_000749.4:c.1209G>C NP_000740.1:p.Ser403=
NM_001347717.1:c.987G>C NP_001334646.1:p.Ser329=
XM_011544390.2:c.822G>C XP_011542692.1:p.Ser274=
NM_000749.5:c.1209G>C MANE Select NP_000740.1:p.Ser403=
NM_001347717.2:c.987G>C NP_001334646.1:p.Ser329=
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