Canonical Allele Identifier: CA385109613
Gene: NFE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54293263A>G , CM000674.2:g.54293263A>G GRCh38
NC_000012.11:g.54687047A>G , CM000674.1:g.54687047A>G GRCh37
NC_000012.10:g.52973314A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435572.7:c.233T>C MANE Select ENSP00000397185.2:p.Leu78Pro
ENST00000312156.8:c.233T>C ENSP00000312436.4:p.Leu78Pro
ENST00000435572.6:c.233T>C ENSP00000397185.2:p.Leu78Pro
ENST00000540264.2:c.233T>C ENSP00000439120.2:p.Leu78Pro
ENST00000553070.5:c.233T>C ENSP00000447558.1:p.Leu78Pro
ENST00000553198.1:c.233T>C ENSP00000446929.1:p.Leu78Pro
NM_001136023.2:c.233T>C NP_001129495.1:p.Leu78Pro
NM_001261461.1:c.233T>C NP_001248390.1:p.Leu78Pro
NM_006163.2:c.233T>C NP_006154.1:p.Leu78Pro
XM_005268906.3:c.233T>C XP_005268963.1:p.Leu78Pro
XM_011538397.1:c.200T>C XP_011536699.1:p.Leu67Pro
XM_005268906.4:c.233T>C XP_005268963.1:p.Leu78Pro
NM_001136023.3:c.233T>C MANE Select NP_001129495.1:p.Leu78Pro
NM_001261461.2:c.233T>C NP_001248390.1:p.Leu78Pro
NM_006163.3:c.233T>C NP_006154.1:p.Leu78Pro
NM_001400365.1:c.233T>C NP_001387294.1:p.Leu78Pro
NM_001400372.1:c.-71T>C NP_001387301.1:n.-71T>C
NM_001400373.1:c.-71T>C NP_001387302.1:n.-71T>C