Canonical Allele Identifier: CA393584643
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601807C>A , CM000677.2:g.78601807C>A GRCh38
NC_000015.9:g.78894149C>A , CM000677.1:g.78894149C>A GRCh37
NC_000015.8:g.76681204C>A NCBI36
NG_016143.1:g.24489G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.835G>T MANE Select ENSP00000315602.5:p.Val279Phe
ENST00000326828.5:c.835G>T ENSP00000315602.5:p.Val279Phe
ENST00000348639.7:c.835G>T ENSP00000267951.4:p.Val279Phe
ENST00000558903.1:n.542G>T
ENST00000559658.5:c.835G>T ENSP00000452896.1:p.Val279Phe
NM_000743.4:c.835G>T NP_000734.2:p.Val279Phe
NM_001166694.1:c.835G>T NP_001160166.1:p.Val279Phe
NR_046313.1:n.1336G>T
XM_006720382.1:c.634G>T XP_006720445.1:p.Val212Phe
XM_011521173.1:c.754G>T XP_011519475.1:p.Val252Phe
XM_006720382.3:c.634G>T XP_006720445.1:p.Val212Phe
NM_000743.5:c.835G>T MANE Select NP_000734.2:p.Val279Phe
NM_001166694.2:c.835G>T NP_001160166.1:p.Val279Phe
NR_046313.2:n.1037G>T