Canonical Allele Identifier: CA393584632
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601801G>C , CM000677.2:g.78601801G>C GRCh38
NC_000015.9:g.78894143G>C , CM000677.1:g.78894143G>C GRCh37
NC_000015.8:g.76681198G>C NCBI36
NG_016143.1:g.24495C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.841C>G MANE Select ENSP00000315602.5:p.Leu281Val
ENST00000326828.5:c.841C>G ENSP00000315602.5:p.Leu281Val
ENST00000348639.7:c.841C>G ENSP00000267951.4:p.Leu281Val
ENST00000558903.1:n.548C>G
ENST00000559658.5:c.841C>G ENSP00000452896.1:p.Leu281Val
NM_000743.4:c.841C>G NP_000734.2:p.Leu281Val
NM_001166694.1:c.841C>G NP_001160166.1:p.Leu281Val
NR_046313.1:n.1342C>G
XM_006720382.1:c.640C>G XP_006720445.1:p.Leu214Val
XM_011521173.1:c.760C>G XP_011519475.1:p.Leu254Val
XM_006720382.3:c.640C>G XP_006720445.1:p.Leu214Val
NM_000743.5:c.841C>G MANE Select NP_000734.2:p.Leu281Val
NM_001166694.2:c.841C>G NP_001160166.1:p.Leu281Val
NR_046313.2:n.1043C>G