Canonical Allele Identifier: CA2687122810

Gene: CHRNB3

Linked Data

• gnomAD v4: 8-42732648-GTGACGTTATATAAGACATGCTTTTTATACATATAACATTTAAAGCAAGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732653_42732703del , CM000670.2:g.42732653_42732703del	GRCh38
NC_000008.10:g.42587796_42587846del , CM000670.1:g.42587796_42587846del	GRCh37
NC_000008.9:g.42706953_42707003del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242+104_1242+154del MANE Select	ENSP00000289957.2:n.1242+104_1242+154del
ENST00000289957.2:c.1242+104_1242+154del	ENSP00000289957.2:n.1242+104_1242+154del
NM_000749.3:c.1242+104_1242+154del	NP_000740.1:n.1242+104_1242+154del
XM_011544390.1:c.855+104_855+154del	XP_011542692.1:n.855+104_855+154del
NM_000749.4:c.1242+104_1242+154del	NP_000740.1:n.1242+104_1242+154del
NM_001347717.1:c.1020+104_1020+154del	NP_001334646.1:n.1020+104_1020+154del
XM_011544390.2:c.855+104_855+154del	XP_011542692.1:n.855+104_855+154del
NM_000749.5:c.1242+104_1242+154del MANE Select	NP_000740.1:n.1242+104_1242+154del
NM_001347717.2:c.1020+104_1020+154del	NP_001334646.1:n.1020+104_1020+154del