Canonical Allele Identifier: CA385109316

Gene: NFE2

Linked Data

• gnomAD v4: 12-54293120-G-C
• MyVariant Identifiers: chr12:g.54686904G>C (hg19) ; chr12:g.54293120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293120G>C , CM000674.2:g.54293120G>C	GRCh38
NC_000012.11:g.54686904G>C , CM000674.1:g.54686904G>C	GRCh37
NC_000012.10:g.52973171G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.376C>G MANE Select	ENSP00000397185.2:p.Leu126Val
ENST00000312156.8:c.376C>G	ENSP00000312436.4:p.Leu126Val
ENST00000435572.6:c.376C>G	ENSP00000397185.2:p.Leu126Val
ENST00000540264.2:c.376C>G	ENSP00000439120.2:p.Leu126Val
ENST00000553070.5:c.376C>G	ENSP00000447558.1:p.Leu126Val
ENST00000553198.1:c.376C>G	ENSP00000446929.1:p.Leu126Val
NM_001136023.2:c.376C>G	NP_001129495.1:p.Leu126Val
NM_001261461.1:c.376C>G	NP_001248390.1:p.Leu126Val
NM_006163.2:c.376C>G	NP_006154.1:p.Leu126Val
XM_005268906.3:c.376C>G	XP_005268963.1:p.Leu126Val
XM_011538397.1:c.343C>G	XP_011536699.1:p.Leu115Val
XM_005268906.4:c.376C>G	XP_005268963.1:p.Leu126Val
NM_001136023.3:c.376C>G MANE Select	NP_001129495.1:p.Leu126Val
NM_001261461.2:c.376C>G	NP_001248390.1:p.Leu126Val
NM_006163.3:c.376C>G	NP_006154.1:p.Leu126Val
NM_001400365.1:c.376C>G	NP_001387294.1:p.Leu126Val
NM_001400372.1:c.73C>G	NP_001387301.1:p.Leu25Val
NM_001400373.1:c.73C>G	NP_001387302.1:p.Leu25Val