Canonical Allele Identifier: CA16333526
Gene: CHRNB3 HGNC NCBI
COSMIC:
COSN19689490 (not active)
MyVariant.info:
GRCh38 chr8:g.42732653G>A
GRCh37 chr8:g.42587796G>A
gnomAD v2:
8:42587796 G / A
gnomAD v3:
8:42732653 G / A
gnomAD v4:
chr8-42732653-G-A
Joint Max Group AF 0.94810342 (NFE)
Genomes Max Group AF 0.94515096 (NFE)
Exomes Max Group AF 0.94788067 (NFE)
dbSNP:
4954
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732653G>A , CM000670.2:g.42732653G>A GRCh38
NC_000008.10:g.42587796G>A , CM000670.1:g.42587796G>A GRCh37
NC_000008.9:g.42706953G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+104G>A MANE Select ENSP00000289957.2:n.1242+104G>A
ENST00000289957.2:c.1242+104G>A ENSP00000289957.2:n.1242+104G>A
NM_000749.3:c.1242+104G>A NP_000740.1:n.1242+104G>A
XM_011544390.1:c.855+104G>A XP_011542692.1:n.855+104G>A
NM_000749.4:c.1242+104G>A NP_000740.1:n.1242+104G>A
NM_001347717.1:c.1020+104G>A NP_001334646.1:n.1020+104G>A
XM_011544390.2:c.855+104G>A XP_011542692.1:n.855+104G>A
NM_000749.5:c.1242+104G>A MANE Select NP_000740.1:n.1242+104G>A
NM_001347717.2:c.1020+104G>A NP_001334646.1:n.1020+104G>A
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