Canonical Allele Identifier: CA1113234862
Gene: CHRNB3 HGNC NCBI

Linked Data

dbSNP Id: rs1816452811
gnomAD v3: 8-42732722-T-C
gnomAD v4: 8-42732722-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732722T>C , CM000670.2:g.42732722T>C GRCh38
NC_000008.10:g.42587865T>C , CM000670.1:g.42587865T>C GRCh37
NC_000008.9:g.42707022T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+173T>C MANE Select ENSP00000289957.2:n.1242+173T>C
ENST00000289957.2:c.1242+173T>C ENSP00000289957.2:n.1242+173T>C
NM_000749.3:c.1242+173T>C NP_000740.1:n.1242+173T>C
XM_011544390.1:c.855+173T>C XP_011542692.1:n.855+173T>C
NM_000749.4:c.1242+173T>C NP_000740.1:n.1242+173T>C
NM_001347717.1:c.1020+173T>C NP_001334646.1:n.1020+173T>C
XM_011544390.2:c.855+173T>C XP_011542692.1:n.855+173T>C
NM_000749.5:c.1242+173T>C MANE Select NP_000740.1:n.1242+173T>C
NM_001347717.2:c.1020+173T>C NP_001334646.1:n.1020+173T>C
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