Canonical Allele Identifier: CA385109482
Gene: NFE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54293197C>A , CM000674.2:g.54293197C>A GRCh38
NC_000012.11:g.54686981C>A , CM000674.1:g.54686981C>A GRCh37
NC_000012.10:g.52973248C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435572.7:c.299G>T MANE Select ENSP00000397185.2:p.Gly100Val
ENST00000312156.8:c.299G>T ENSP00000312436.4:p.Gly100Val
ENST00000435572.6:c.299G>T ENSP00000397185.2:p.Gly100Val
ENST00000540264.2:c.299G>T ENSP00000439120.2:p.Gly100Val
ENST00000553070.5:c.299G>T ENSP00000447558.1:p.Gly100Val
ENST00000553198.1:c.299G>T ENSP00000446929.1:p.Gly100Val
NM_001136023.2:c.299G>T NP_001129495.1:p.Gly100Val
NM_001261461.1:c.299G>T NP_001248390.1:p.Gly100Val
NM_006163.2:c.299G>T NP_006154.1:p.Gly100Val
XM_005268906.3:c.299G>T XP_005268963.1:p.Gly100Val
XM_011538397.1:c.266G>T XP_011536699.1:p.Gly89Val
XM_005268906.4:c.299G>T XP_005268963.1:p.Gly100Val
NM_001136023.3:c.299G>T MANE Select NP_001129495.1:p.Gly100Val
NM_001261461.2:c.299G>T NP_001248390.1:p.Gly100Val
NM_006163.3:c.299G>T NP_006154.1:p.Gly100Val
NM_001400365.1:c.299G>T NP_001387294.1:p.Gly100Val
NM_001400372.1:c.-5G>T NP_001387301.1:n.-5G>T
NM_001400373.1:c.-5G>T NP_001387302.1:n.-5G>T