Canonical Allele Identifier: CA371102546

Gene: CHRNB3

Linked Data

• MyVariant Identifiers: chr8:g.42587670A>C (hg19) ; chr8:g.42732527A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732527A>C , CM000670.2:g.42732527A>C	GRCh38
NC_000008.10:g.42587670A>C , CM000670.1:g.42587670A>C	GRCh37
NC_000008.9:g.42706827A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1220A>C MANE Select	ENSP00000289957.2:p.Lys407Thr
ENST00000289957.2:c.1220A>C	ENSP00000289957.2:p.Lys407Thr
NM_000749.3:c.1220A>C	NP_000740.1:p.Lys407Thr
XM_011544390.1:c.833A>C	XP_011542692.1:p.Lys278Thr
NM_000749.4:c.1220A>C	NP_000740.1:p.Lys407Thr
NM_001347717.1:c.998A>C	NP_001334646.1:p.Lys333Thr
XM_011544390.2:c.833A>C	XP_011542692.1:p.Lys278Thr
NM_000749.5:c.1220A>C MANE Select	NP_000740.1:p.Lys407Thr
NM_001347717.2:c.998A>C	NP_001334646.1:p.Lys333Thr