Canonical Allele Identifier: CA385109442

Gene: NFE2

Linked Data

• MyVariant Identifiers: chr12:g.54686964C>G (hg19) ; chr12:g.54293180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293180C>G , CM000674.2:g.54293180C>G	GRCh38
NC_000012.11:g.54686964C>G , CM000674.1:g.54686964C>G	GRCh37
NC_000012.10:g.52973231C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435572.7:c.316G>C MANE Select	ENSP00000397185.2:p.Val106Leu
ENST00000312156.8:c.316G>C	ENSP00000312436.4:p.Val106Leu
ENST00000435572.6:c.316G>C	ENSP00000397185.2:p.Val106Leu
ENST00000540264.2:c.316G>C	ENSP00000439120.2:p.Val106Leu
ENST00000553070.5:c.316G>C	ENSP00000447558.1:p.Val106Leu
ENST00000553198.1:c.316G>C	ENSP00000446929.1:p.Val106Leu
NM_001136023.2:c.316G>C	NP_001129495.1:p.Val106Leu
NM_001261461.1:c.316G>C	NP_001248390.1:p.Val106Leu
NM_006163.2:c.316G>C	NP_006154.1:p.Val106Leu
XM_005268906.3:c.316G>C	XP_005268963.1:p.Val106Leu
XM_011538397.1:c.283G>C	XP_011536699.1:p.Val95Leu
XM_005268906.4:c.316G>C	XP_005268963.1:p.Val106Leu
NM_001136023.3:c.316G>C MANE Select	NP_001129495.1:p.Val106Leu
NM_001261461.2:c.316G>C	NP_001248390.1:p.Val106Leu
NM_006163.3:c.316G>C	NP_006154.1:p.Val106Leu
NM_001400365.1:c.316G>C	NP_001387294.1:p.Val106Leu
NM_001400372.1:c.13G>C	NP_001387301.1:p.Val5Leu
NM_001400373.1:c.13G>C	NP_001387302.1:p.Val5Leu