Canonical Allele Identifier: CA851926652
Gene: CHRNB3 HGNC NCBI

Linked Data

dbSNP Id: rs1372856587
gnomAD v3: 8-42732833-TC-T
gnomAD v4: 8-42732833-TC-T
MyVariant Identifiers: chr8:g.42587977del (hg19) chr8:g.42732834del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732834del , CM000670.2:g.42732834del GRCh38
NC_000008.10:g.42587977del , CM000670.1:g.42587977del GRCh37
NC_000008.9:g.42707134del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+285del MANE Select ENSP00000289957.2:n.1242+285del
ENST00000289957.2:c.1242+285del ENSP00000289957.2:n.1242+285del
NM_000749.3:c.1242+285del NP_000740.1:n.1242+285del
XM_011544390.1:c.855+285del XP_011542692.1:n.855+285del
NM_000749.4:c.1242+285del NP_000740.1:n.1242+285del
NM_001347717.1:c.1020+285del NP_001334646.1:n.1020+285del
XM_011544390.2:c.855+285del XP_011542692.1:n.855+285del
NM_000749.5:c.1242+285del MANE Select NP_000740.1:n.1242+285del
NM_001347717.2:c.1020+285del NP_001334646.1:n.1020+285del
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