Canonical Allele Identifier: CA393589054
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78617070C>G , CM000677.2:g.78617070C>G GRCh38
NC_000015.9:g.78909412C>G , CM000677.1:g.78909412C>G GRCh37
NC_000015.8:g.76696467C>G NCBI36
NG_016143.1:g.9226G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326828.6:c.331G>C MANE Select ENSP00000315602.5:p.Val111Leu
ENST00000326828.5:c.331G>C ENSP00000315602.5:p.Val111Leu
ENST00000348639.7:c.331G>C ENSP00000267951.4:p.Val111Leu
ENST00000559658.5:c.331G>C ENSP00000452896.1:p.Val111Leu
NM_000743.4:c.331G>C NP_000734.2:p.Val111Leu
NM_001166694.1:c.331G>C NP_001160166.1:p.Val111Leu
NR_046313.1:n.832G>C
XM_006720382.1:c.130G>C XP_006720445.1:p.Val44Leu
XM_011521173.1:c.250G>C XP_011519475.1:p.Val84Leu
XM_006720382.3:c.130G>C XP_006720445.1:p.Val44Leu
NM_000743.5:c.331G>C MANE Select NP_000734.2:p.Val111Leu
NM_001166694.2:c.331G>C NP_001160166.1:p.Val111Leu
NR_046313.2:n.533G>C