Canonical Allele Identifier: CA2619127359

Gene: NFE2

Linked Data

• gnomAD v4: 12-54293451-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293451A>C , CM000674.2:g.54293451A>C	GRCh38
NC_000012.11:g.54687235A>C , CM000674.1:g.54687235A>C	GRCh37
NC_000012.10:g.52973502A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435572.7:c.115-70T>G MANE Select	ENSP00000397185.2:n.115-70T>G
ENST00000312156.8:c.115-70T>G	ENSP00000312436.4:n.115-70T>G
ENST00000435572.6:c.115-70T>G	ENSP00000397185.2:n.115-70T>G
ENST00000540264.2:c.115-70T>G	ENSP00000439120.2:n.115-70T>G
ENST00000553070.5:c.115-70T>G	ENSP00000447558.1:n.115-70T>G
ENST00000553198.1:c.115-70T>G	ENSP00000446929.1:n.115-70T>G
NM_001136023.2:c.115-70T>G	NP_001129495.1:n.115-70T>G
NM_001261461.1:c.115-70T>G	NP_001248390.1:n.115-70T>G
NM_006163.2:c.115-70T>G	NP_006154.1:n.115-70T>G
XM_005268906.3:c.115-70T>G	XP_005268963.1:n.115-70T>G
XM_011538397.1:c.82-70T>G	XP_011536699.1:n.82-70T>G
XM_005268906.4:c.115-70T>G	XP_005268963.1:n.115-70T>G
NM_001136023.3:c.115-70T>G MANE Select	NP_001129495.1:n.115-70T>G
NM_001261461.2:c.115-70T>G	NP_001248390.1:n.115-70T>G
NM_006163.3:c.115-70T>G	NP_006154.1:n.115-70T>G
NM_001400365.1:c.115-70T>G	NP_001387294.1:n.115-70T>G
NM_001400372.1:c.-189-70T>G	NP_001387301.1:n.-189-70T>G
NM_001400373.1:c.-189-70T>G	NP_001387302.1:n.-189-70T>G