Canonical Allele Identifier: CA2687122755
Gene: CHRNB3 HGNC NCBI

Linked Data

gnomAD v4: 8-42732589-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732589T>G , CM000670.2:g.42732589T>G GRCh38
NC_000008.10:g.42587732T>G , CM000670.1:g.42587732T>G GRCh37
NC_000008.9:g.42706889T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+40T>G MANE Select ENSP00000289957.2:n.1242+40T>G
ENST00000289957.2:c.1242+40T>G ENSP00000289957.2:n.1242+40T>G
NM_000749.3:c.1242+40T>G NP_000740.1:n.1242+40T>G
XM_011544390.1:c.855+40T>G XP_011542692.1:n.855+40T>G
NM_000749.4:c.1242+40T>G NP_000740.1:n.1242+40T>G
NM_001347717.1:c.1020+40T>G NP_001334646.1:n.1020+40T>G
XM_011544390.2:c.855+40T>G XP_011542692.1:n.855+40T>G
NM_000749.5:c.1242+40T>G MANE Select NP_000740.1:n.1242+40T>G
NM_001347717.2:c.1020+40T>G NP_001334646.1:n.1020+40T>G