Canonical Allele Identifier: CA393584671
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601819G>T , CM000677.2:g.78601819G>T GRCh38
NC_000015.9:g.78894161G>T , CM000677.1:g.78894161G>T GRCh37
NC_000015.8:g.76681216G>T NCBI36
NG_016143.1:g.24477C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.823C>A MANE Select ENSP00000315602.5:p.Leu275Met
ENST00000326828.5:c.823C>A ENSP00000315602.5:p.Leu275Met
ENST00000348639.7:c.823C>A ENSP00000267951.4:p.Leu275Met
ENST00000558903.1:n.530C>A
ENST00000559658.5:c.823C>A ENSP00000452896.1:p.Leu275Met
NM_000743.4:c.823C>A NP_000734.2:p.Leu275Met
NM_001166694.1:c.823C>A NP_001160166.1:p.Leu275Met
NR_046313.1:n.1324C>A
XM_006720382.1:c.622C>A XP_006720445.1:p.Leu208Met
XM_011521173.1:c.742C>A XP_011519475.1:p.Leu248Met
XM_006720382.3:c.622C>A XP_006720445.1:p.Leu208Met
NM_000743.5:c.823C>A MANE Select NP_000734.2:p.Leu275Met
NM_001166694.2:c.823C>A NP_001160166.1:p.Leu275Met
NR_046313.2:n.1025C>A