Canonical Allele Identifier: CA4734088

Gene: CHRNB3

Linked Data

• dbSNP Id: rs754067790
• ExAC: 8:42587683 T / G
• gnomAD v2: 8-42587683-T-G
• MyVariant Identifiers: chr8:g.42587683T>G (hg19) ; chr8:g.42732540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732540T>G , CM000670.2:g.42732540T>G	GRCh38
NC_000008.10:g.42587683T>G , CM000670.1:g.42587683T>G	GRCh37
NC_000008.9:g.42706840T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1233T>G MANE Select	ENSP00000289957.2:p.Phe411Leu
ENST00000289957.2:c.1233T>G	ENSP00000289957.2:p.Phe411Leu
NM_000749.3:c.1233T>G	NP_000740.1:p.Phe411Leu
XM_011544390.1:c.846T>G	XP_011542692.1:p.Phe282Leu
NM_000749.4:c.1233T>G	NP_000740.1:p.Phe411Leu
NM_001347717.1:c.1011T>G	NP_001334646.1:p.Phe337Leu
XM_011544390.2:c.846T>G	XP_011542692.1:p.Phe282Leu
NM_000749.5:c.1233T>G MANE Select	NP_000740.1:p.Phe411Leu
NM_001347717.2:c.1011T>G	NP_001334646.1:p.Phe337Leu