Canonical Allele Identifier: CA393584618
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601794A>G , CM000677.2:g.78601794A>G GRCh38
NC_000015.9:g.78894136A>G , CM000677.1:g.78894136A>G GRCh37
NC_000015.8:g.76681191A>G NCBI36
NG_016143.1:g.24502T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.848T>C MANE Select ENSP00000315602.5:p.Leu283Pro
ENST00000326828.5:c.848T>C ENSP00000315602.5:p.Leu283Pro
ENST00000348639.7:c.848T>C ENSP00000267951.4:p.Leu283Pro
ENST00000558903.1:n.555T>C
ENST00000559658.5:c.848T>C ENSP00000452896.1:p.Leu283Pro
NM_000743.4:c.848T>C NP_000734.2:p.Leu283Pro
NM_001166694.1:c.848T>C NP_001160166.1:p.Leu283Pro
NR_046313.1:n.1349T>C
XM_006720382.1:c.647T>C XP_006720445.1:p.Leu216Pro
XM_011521173.1:c.767T>C XP_011519475.1:p.Leu256Pro
XM_006720382.3:c.647T>C XP_006720445.1:p.Leu216Pro
NM_000743.5:c.848T>C MANE Select NP_000734.2:p.Leu283Pro
NM_001166694.2:c.848T>C NP_001160166.1:p.Leu283Pro
NR_046313.2:n.1050T>C