Canonical Allele Identifier: CA176029352

Gene: CHRNB3

Linked Data

• dbSNP Id: rs978228305
• gnomAD v2: 8-42587911-GAAGCAACTGTTGATT-G
• gnomAD v3: 8-42732768-GAAGCAACTGTTGATT-G
• gnomAD v4: 8-42732768-GAAGCAACTGTTGATT-G
• MyVariant Identifiers: chr8:g.42587912_42587926del (hg19) ; chr8:g.42732769_42732783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732789_42732803del , CM000670.2:g.42732789_42732803del	GRCh38
NC_000008.10:g.42587932_42587946del , CM000670.1:g.42587932_42587946del	GRCh37
NC_000008.9:g.42707089_42707103del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242+240_1242+254del MANE Select	ENSP00000289957.2:n.1242+240_1242+254del
ENST00000289957.2:c.1242+240_1242+254del	ENSP00000289957.2:n.1242+240_1242+254del
NM_000749.3:c.1242+240_1242+254del	NP_000740.1:n.1242+240_1242+254del
XM_011544390.1:c.855+240_855+254del	XP_011542692.1:n.855+240_855+254del
NM_000749.4:c.1242+240_1242+254del	NP_000740.1:n.1242+240_1242+254del
NM_001347717.1:c.1020+240_1020+254del	NP_001334646.1:n.1020+240_1020+254del
XM_011544390.2:c.855+240_855+254del	XP_011542692.1:n.855+240_855+254del
NM_000749.5:c.1242+240_1242+254del MANE Select	NP_000740.1:n.1242+240_1242+254del
NM_001347717.2:c.1020+240_1020+254del	NP_001334646.1:n.1020+240_1020+254del