Canonical Allele Identifier: CA393584637
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601804G>A , CM000677.2:g.78601804G>A GRCh38
NC_000015.9:g.78894146G>A , CM000677.1:g.78894146G>A GRCh37
NC_000015.8:g.76681201G>A NCBI36
NG_016143.1:g.24492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.838C>T MANE Select ENSP00000315602.5:p.Leu280Phe
ENST00000326828.5:c.838C>T ENSP00000315602.5:p.Leu280Phe
ENST00000348639.7:c.838C>T ENSP00000267951.4:p.Leu280Phe
ENST00000558903.1:n.545C>T
ENST00000559658.5:c.838C>T ENSP00000452896.1:p.Leu280Phe
NM_000743.4:c.838C>T NP_000734.2:p.Leu280Phe
NM_001166694.1:c.838C>T NP_001160166.1:p.Leu280Phe
NR_046313.1:n.1339C>T
XM_006720382.1:c.637C>T XP_006720445.1:p.Leu213Phe
XM_011521173.1:c.757C>T XP_011519475.1:p.Leu253Phe
XM_006720382.3:c.637C>T XP_006720445.1:p.Leu213Phe
NM_000743.5:c.838C>T MANE Select NP_000734.2:p.Leu280Phe
NM_001166694.2:c.838C>T NP_001160166.1:p.Leu280Phe
NR_046313.2:n.1040C>T