Canonical Allele Identifier: CA393576220
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78618850T>G , CM000677.2:g.78618850T>G GRCh38
NC_000015.9:g.78911192T>G , CM000677.1:g.78911192T>G GRCh37
NC_000015.8:g.76698247T>G NCBI36
NG_016143.1:g.7446A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326828.6:c.148A>C MANE Select ENSP00000315602.5:p.Ile50Leu
ENST00000326828.5:c.148A>C ENSP00000315602.5:p.Ile50Leu
ENST00000348639.7:c.148A>C ENSP00000267951.4:p.Ile50Leu
ENST00000559080.1:c.-54A>C ENSP00000453993.1:n.-54A>C
ENST00000559658.5:c.148A>C ENSP00000452896.1:p.Ile50Leu
ENST00000559941.1:n.591A>C
ENST00000561128.1:n.143A>C
NM_000743.4:c.148A>C NP_000734.2:p.Ile50Leu
NM_001166694.1:c.148A>C NP_001160166.1:p.Ile50Leu
NR_046313.1:n.649A>C
XM_006720382.1:c.-54A>C XP_006720445.1:n.-54A>C
XM_011521173.1:c.67A>C XP_011519475.1:p.Ile23Leu
XM_006720382.3:c.-54A>C XP_006720445.1:n.-54A>C
NM_000743.5:c.148A>C MANE Select NP_000734.2:p.Ile50Leu
NM_001166694.2:c.148A>C NP_001160166.1:p.Ile50Leu
NR_046313.2:n.350A>C