Canonical Allele Identifier: CA12904739

Gene: CHRNB3

Linked Data

• dbSNP Id: rs114484897
• gnomAD v2: 8-42587919-T-A
• gnomAD v3: 8-42732776-T-A
• gnomAD v4: 8-42732776-T-A
• MyVariant Identifiers: chr8:g.42587919T>A (hg19) ; chr8:g.42732776T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732776T>A , CM000670.2:g.42732776T>A	GRCh38
NC_000008.10:g.42587919T>A , CM000670.1:g.42587919T>A	GRCh37
NC_000008.9:g.42707076T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242+227T>A MANE Select	ENSP00000289957.2:n.1242+227T>A
ENST00000289957.2:c.1242+227T>A	ENSP00000289957.2:n.1242+227T>A
NM_000749.3:c.1242+227T>A	NP_000740.1:n.1242+227T>A
XM_011544390.1:c.855+227T>A	XP_011542692.1:n.855+227T>A
NM_000749.4:c.1242+227T>A	NP_000740.1:n.1242+227T>A
NM_001347717.1:c.1020+227T>A	NP_001334646.1:n.1020+227T>A
XM_011544390.2:c.855+227T>A	XP_011542692.1:n.855+227T>A
NM_000749.5:c.1242+227T>A MANE Select	NP_000740.1:n.1242+227T>A
NM_001347717.2:c.1020+227T>A	NP_001334646.1:n.1020+227T>A