Canonical Allele Identifier: CA385109325

Gene: NFE2

Linked Data

• MyVariant Identifiers: chr12:g.54686908T>G (hg19) ; chr12:g.54293124T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293124T>G , CM000674.2:g.54293124T>G	GRCh38
NC_000012.11:g.54686908T>G , CM000674.1:g.54686908T>G	GRCh37
NC_000012.10:g.52973175T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.372A>C MANE Select	ENSP00000397185.2:p.Leu124Phe
ENST00000312156.8:c.372A>C	ENSP00000312436.4:p.Leu124Phe
ENST00000435572.6:c.372A>C	ENSP00000397185.2:p.Leu124Phe
ENST00000540264.2:c.372A>C	ENSP00000439120.2:p.Leu124Phe
ENST00000553070.5:c.372A>C	ENSP00000447558.1:p.Leu124Phe
ENST00000553198.1:c.372A>C	ENSP00000446929.1:p.Leu124Phe
NM_001136023.2:c.372A>C	NP_001129495.1:p.Leu124Phe
NM_001261461.1:c.372A>C	NP_001248390.1:p.Leu124Phe
NM_006163.2:c.372A>C	NP_006154.1:p.Leu124Phe
XM_005268906.3:c.372A>C	XP_005268963.1:p.Leu124Phe
XM_011538397.1:c.339A>C	XP_011536699.1:p.Leu113Phe
XM_005268906.4:c.372A>C	XP_005268963.1:p.Leu124Phe
NM_001136023.3:c.372A>C MANE Select	NP_001129495.1:p.Leu124Phe
NM_001261461.2:c.372A>C	NP_001248390.1:p.Leu124Phe
NM_006163.3:c.372A>C	NP_006154.1:p.Leu124Phe
NM_001400365.1:c.372A>C	NP_001387294.1:p.Leu124Phe
NM_001400372.1:c.69A>C	NP_001387301.1:p.Leu23Phe
NM_001400373.1:c.69A>C	NP_001387302.1:p.Leu23Phe