Canonical Allele Identifier: CA1113234873

Gene: CHRNB3

Linked Data

• dbSNP Id: rs1816454257
• gnomAD v3: 8-42732872-AAT-A
• gnomAD v4: 8-42732872-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732873_42732874del , CM000670.2:g.42732873_42732874del	GRCh38
NC_000008.10:g.42588016_42588017del , CM000670.1:g.42588016_42588017del	GRCh37
NC_000008.9:g.42707173_42707174del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242+324_1242+325del MANE Select	ENSP00000289957.2:n.1242+324_1242+325del
ENST00000289957.2:c.1242+324_1242+325del	ENSP00000289957.2:n.1242+324_1242+325del
NM_000749.3:c.1242+324_1242+325del	NP_000740.1:n.1242+324_1242+325del
XM_011544390.1:c.855+324_855+325del	XP_011542692.1:n.855+324_855+325del
NM_000749.4:c.1242+324_1242+325del	NP_000740.1:n.1242+324_1242+325del
NM_001347717.1:c.1020+324_1020+325del	NP_001334646.1:n.1020+324_1020+325del
XM_011544390.2:c.855+324_855+325del	XP_011542692.1:n.855+324_855+325del
NM_000749.5:c.1242+324_1242+325del MANE Select	NP_000740.1:n.1242+324_1242+325del
NM_001347717.2:c.1020+324_1020+325del	NP_001334646.1:n.1020+324_1020+325del