Canonical Allele Identifier: CA393584757
Gene: CHRNA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78601858C>G , CM000677.2:g.78601858C>G GRCh38
NC_000015.9:g.78894200C>G , CM000677.1:g.78894200C>G GRCh37
NC_000015.8:g.76681255C>G NCBI36
NG_016143.1:g.24438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.784G>C MANE Select ENSP00000315602.5:p.Val262Leu
ENST00000326828.5:c.784G>C ENSP00000315602.5:p.Val262Leu
ENST00000348639.7:c.784G>C ENSP00000267951.4:p.Val262Leu
ENST00000558903.1:n.491G>C
ENST00000559658.5:c.784G>C ENSP00000452896.1:p.Val262Leu
NM_000743.4:c.784G>C NP_000734.2:p.Val262Leu
NM_001166694.1:c.784G>C NP_001160166.1:p.Val262Leu
NR_046313.1:n.1285G>C
XM_006720382.1:c.583G>C XP_006720445.1:p.Val195Leu
XM_011521173.1:c.703G>C XP_011519475.1:p.Val235Leu
XM_006720382.3:c.583G>C XP_006720445.1:p.Val195Leu
NM_000743.5:c.784G>C MANE Select NP_000734.2:p.Val262Leu
NM_001166694.2:c.784G>C NP_001160166.1:p.Val262Leu
NR_046313.2:n.986G>C