Canonical Allele Identifier: CA480095007

Gene: NFE2

Linked Data

• MyVariant Identifiers: chr12:g.54686962G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293178G>T , CM000674.2:g.54293178G>T	GRCh38
NC_000012.11:g.54686962G>T , CM000674.1:g.54686962G>T	GRCh37
NC_000012.10:g.52973229G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.318C>A MANE Select	ENSP00000397185.2:p.Val106=
ENST00000312156.8:c.318C>A	ENSP00000312436.4:p.Val106=
ENST00000435572.6:c.318C>A	ENSP00000397185.2:p.Val106=
ENST00000540264.2:c.318C>A	ENSP00000439120.2:p.Val106=
ENST00000553070.5:c.318C>A	ENSP00000447558.1:p.Val106=
ENST00000553198.1:c.318C>A	ENSP00000446929.1:p.Val106=
NM_001136023.2:c.318C>A	NP_001129495.1:p.Val106=
NM_001261461.1:c.318C>A	NP_001248390.1:p.Val106=
NM_006163.2:c.318C>A	NP_006154.1:p.Val106=
XM_005268906.3:c.318C>A	XP_005268963.1:p.Val106=
XM_011538397.1:c.285C>A	XP_011536699.1:p.Val95=
XM_005268906.4:c.318C>A	XP_005268963.1:p.Val106=
NM_001136023.3:c.318C>A MANE Select	NP_001129495.1:p.Val106=
NM_001261461.2:c.318C>A	NP_001248390.1:p.Val106=
NM_006163.3:c.318C>A	NP_006154.1:p.Val106=
NM_001400365.1:c.318C>A	NP_001387294.1:p.Val106=
NM_001400372.1:c.15C>A	NP_001387301.1:p.Val5=
NM_001400373.1:c.15C>A	NP_001387302.1:p.Val5=