Canonical Allele Identifier: CA371102597

Gene: CHRNB3

Linked Data

• MyVariant Identifiers: chr8:g.42587690C>A (hg19) ; chr8:g.42732547C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732547C>A , CM000670.2:g.42732547C>A	GRCh38
NC_000008.10:g.42587690C>A , CM000670.1:g.42587690C>A	GRCh37
NC_000008.9:g.42706847C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1240C>A MANE Select	ENSP00000289957.2:p.Gln414Lys
ENST00000289957.2:c.1240C>A	ENSP00000289957.2:p.Gln414Lys
NM_000749.3:c.1240C>A	NP_000740.1:p.Gln414Lys
XM_011544390.1:c.853C>A	XP_011542692.1:p.Gln285Lys
NM_000749.4:c.1240C>A	NP_000740.1:p.Gln414Lys
NM_001347717.1:c.1018C>A	NP_001334646.1:p.Gln340Lys
XM_011544390.2:c.853C>A	XP_011542692.1:p.Gln285Lys
NM_000749.5:c.1240C>A MANE Select	NP_000740.1:p.Gln414Lys
NM_001347717.2:c.1018C>A	NP_001334646.1:p.Gln340Lys