Canonical Allele Identifier: CA371102577

Gene: CHRNB3

Linked Data

• dbSNP Id: rs1220656376
• gnomAD v2: 8-42587681-T-C
• gnomAD v4: 8-42732538-T-C
• MyVariant Identifiers: chr8:g.42587681T>C (hg19) ; chr8:g.42732538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732538T>C , CM000670.2:g.42732538T>C	GRCh38
NC_000008.10:g.42587681T>C , CM000670.1:g.42587681T>C	GRCh37
NC_000008.9:g.42706838T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1231T>C MANE Select	ENSP00000289957.2:p.Phe411Leu
ENST00000289957.2:c.1231T>C	ENSP00000289957.2:p.Phe411Leu
NM_000749.3:c.1231T>C	NP_000740.1:p.Phe411Leu
XM_011544390.1:c.844T>C	XP_011542692.1:p.Phe282Leu
NM_000749.4:c.1231T>C	NP_000740.1:p.Phe411Leu
NM_001347717.1:c.1009T>C	NP_001334646.1:p.Phe337Leu
XM_011544390.2:c.844T>C	XP_011542692.1:p.Phe282Leu
NM_000749.5:c.1231T>C MANE Select	NP_000740.1:p.Phe411Leu
NM_001347717.2:c.1009T>C	NP_001334646.1:p.Phe337Leu