Canonical Allele Identifier: CA581623660
Gene: CHRNB3 HGNC NCBI

Linked Data

dbSNP Id: rs1425555245
gnomAD v2: 8-42587726-TA-T
gnomAD v3: 8-42732583-TA-T
gnomAD v4: 8-42732583-TA-T
MyVariant Identifiers: chr8:g.42587727del (hg19) chr8:g.42732584del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732586del , CM000670.2:g.42732586del GRCh38
NC_000008.10:g.42587729del , CM000670.1:g.42587729del GRCh37
NC_000008.9:g.42706886del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+37del MANE Select ENSP00000289957.2:n.1242+37del
ENST00000289957.2:c.1242+37del ENSP00000289957.2:n.1242+37del
NM_000749.3:c.1242+37del NP_000740.1:n.1242+37del
XM_011544390.1:c.855+37del XP_011542692.1:n.855+37del
NM_000749.4:c.1242+37del NP_000740.1:n.1242+37del
NM_001347717.1:c.1020+37del NP_001334646.1:n.1020+37del
XM_011544390.2:c.855+37del XP_011542692.1:n.855+37del
NM_000749.5:c.1242+37del MANE Select NP_000740.1:n.1242+37del
NM_001347717.2:c.1020+37del NP_001334646.1:n.1020+37del
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