Canonical Allele Identifier: CA4734093

Gene: CHRNB3

Linked Data

• dbSNP Id: rs754918266
• ExAC: 8:42587719 G / A
• gnomAD v2: 8-42587719-G-A
• gnomAD v4: 8-42732576-G-A
• MyVariant Identifiers: chr8:g.42587719G>A (hg19) ; chr8:g.42732576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732576G>A , CM000670.2:g.42732576G>A	GRCh38
NC_000008.10:g.42587719G>A , CM000670.1:g.42587719G>A	GRCh37
NC_000008.9:g.42706876G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242+27G>A MANE Select	ENSP00000289957.2:n.1242+27G>A
ENST00000289957.2:c.1242+27G>A	ENSP00000289957.2:n.1242+27G>A
NM_000749.3:c.1242+27G>A	NP_000740.1:n.1242+27G>A
XM_011544390.1:c.855+27G>A	XP_011542692.1:n.855+27G>A
NM_000749.4:c.1242+27G>A	NP_000740.1:n.1242+27G>A
NM_001347717.1:c.1020+27G>A	NP_001334646.1:n.1020+27G>A
XM_011544390.2:c.855+27G>A	XP_011542692.1:n.855+27G>A
NM_000749.5:c.1242+27G>A MANE Select	NP_000740.1:n.1242+27G>A
NM_001347717.2:c.1020+27G>A	NP_001334646.1:n.1020+27G>A