Canonical Allele Identifier: CA385109312

Gene: NFE2

Linked Data

• gnomAD v4: 12-54293117-G-T
• MyVariant Identifiers: chr12:g.54686901G>T (hg19) ; chr12:g.54293117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293117G>T , CM000674.2:g.54293117G>T	GRCh38
NC_000012.11:g.54686901G>T , CM000674.1:g.54686901G>T	GRCh37
NC_000012.10:g.52973168G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.379C>A MANE Select	ENSP00000397185.2:p.Leu127Met
ENST00000312156.8:c.379C>A	ENSP00000312436.4:p.Leu127Met
ENST00000435572.6:c.379C>A	ENSP00000397185.2:p.Leu127Met
ENST00000540264.2:c.379C>A	ENSP00000439120.2:p.Leu127Met
ENST00000553070.5:c.379C>A	ENSP00000447558.1:p.Leu127Met
ENST00000553198.1:c.379C>A	ENSP00000446929.1:p.Leu127Met
NM_001136023.2:c.379C>A	NP_001129495.1:p.Leu127Met
NM_001261461.1:c.379C>A	NP_001248390.1:p.Leu127Met
NM_006163.2:c.379C>A	NP_006154.1:p.Leu127Met
XM_005268906.3:c.379C>A	XP_005268963.1:p.Leu127Met
XM_011538397.1:c.346C>A	XP_011536699.1:p.Leu116Met
XM_005268906.4:c.379C>A	XP_005268963.1:p.Leu127Met
NM_001136023.3:c.379C>A MANE Select	NP_001129495.1:p.Leu127Met
NM_001261461.2:c.379C>A	NP_001248390.1:p.Leu127Met
NM_006163.3:c.379C>A	NP_006154.1:p.Leu127Met
NM_001400365.1:c.379C>A	NP_001387294.1:p.Leu127Met
NM_001400372.1:c.76C>A	NP_001387301.1:p.Leu26Met
NM_001400373.1:c.76C>A	NP_001387302.1:p.Leu26Met