Canonical Allele Identifier: CA393586065
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78602155C>A , CM000677.2:g.78602155C>A GRCh38
NC_000015.9:g.78894497C>A , CM000677.1:g.78894497C>A GRCh37
NC_000015.8:g.76681552C>A NCBI36
NG_016143.1:g.24141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.487G>T MANE Select ENSP00000315602.5:p.Val163Leu
ENST00000326828.5:c.487G>T ENSP00000315602.5:p.Val163Leu
ENST00000348639.7:c.487G>T ENSP00000267951.4:p.Val163Leu
ENST00000558903.1:n.194G>T
ENST00000559658.5:c.487G>T ENSP00000452896.1:p.Val163Leu
NM_000743.4:c.487G>T NP_000734.2:p.Val163Leu
NM_001166694.1:c.487G>T NP_001160166.1:p.Val163Leu
NR_046313.1:n.988G>T
XM_006720382.1:c.286G>T XP_006720445.1:p.Val96Leu
XM_011521173.1:c.406G>T XP_011519475.1:p.Val136Leu
XM_006720382.3:c.286G>T XP_006720445.1:p.Val96Leu
NM_000743.5:c.487G>T MANE Select NP_000734.2:p.Val163Leu
NM_001166694.2:c.487G>T NP_001160166.1:p.Val163Leu
NR_046313.2:n.689G>T