Canonical Allele Identifier: CA176029336
Gene: CHRNB3 HGNC NCBI

Linked Data

dbSNP Id: rs866291587
gnomAD v3: 8-42732696-G-A
gnomAD v4: 8-42732696-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732696G>A , CM000670.2:g.42732696G>A GRCh38
NC_000008.10:g.42587839G>A , CM000670.1:g.42587839G>A GRCh37
NC_000008.9:g.42706996G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+147G>A MANE Select ENSP00000289957.2:n.1242+147G>A
ENST00000289957.2:c.1242+147G>A ENSP00000289957.2:n.1242+147G>A
NM_000749.3:c.1242+147G>A NP_000740.1:n.1242+147G>A
XM_011544390.1:c.855+147G>A XP_011542692.1:n.855+147G>A
NM_000749.4:c.1242+147G>A NP_000740.1:n.1242+147G>A
NM_001347717.1:c.1020+147G>A NP_001334646.1:n.1020+147G>A
XM_011544390.2:c.855+147G>A XP_011542692.1:n.855+147G>A
NM_000749.5:c.1242+147G>A MANE Select NP_000740.1:n.1242+147G>A
NM_001347717.2:c.1020+147G>A NP_001334646.1:n.1020+147G>A