Canonical Allele Identifier: CA371102602

Gene: CHRNB3

Linked Data

• MyVariant Identifiers: chr8:g.42587691A>T (hg19) ; chr8:g.42732548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732548A>T , CM000670.2:g.42732548A>T	GRCh38
NC_000008.10:g.42587691A>T , CM000670.1:g.42587691A>T	GRCh37
NC_000008.9:g.42706848A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1241A>T MANE Select	ENSP00000289957.2:p.Gln414Leu
ENST00000289957.2:c.1241A>T	ENSP00000289957.2:p.Gln414Leu
NM_000749.3:c.1241A>T	NP_000740.1:p.Gln414Leu
XM_011544390.1:c.854A>T	XP_011542692.1:p.Gln285Leu
NM_000749.4:c.1241A>T	NP_000740.1:p.Gln414Leu
NM_001347717.1:c.1019A>T	NP_001334646.1:p.Gln340Leu
XM_011544390.2:c.854A>T	XP_011542692.1:p.Gln285Leu
NM_000749.5:c.1241A>T MANE Select	NP_000740.1:p.Gln414Leu
NM_001347717.2:c.1019A>T	NP_001334646.1:p.Gln340Leu