Canonical Allele Identifier: CA6606633

Gene: NFE2

Linked Data

• dbSNP Id: rs764750991
• ExAC: 12:54687149 C / G
• gnomAD v2: 12-54687149-C-G
• gnomAD v3: 12-54293365-C-G
• gnomAD v4: 12-54293365-C-G
• MyVariant Identifiers: chr12:g.54687149C>G (hg19) ; chr12:g.54293365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54293365C>G , CM000674.2:g.54293365C>G	GRCh38
NC_000012.11:g.54687149C>G , CM000674.1:g.54687149C>G	GRCh37
NC_000012.10:g.52973416C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000435572.7:c.131G>C MANE Select	ENSP00000397185.2:p.Ser44Thr
ENST00000312156.8:c.131G>C	ENSP00000312436.4:p.Ser44Thr
ENST00000435572.6:c.131G>C	ENSP00000397185.2:p.Ser44Thr
ENST00000540264.2:c.131G>C	ENSP00000439120.2:p.Ser44Thr
ENST00000553070.5:c.131G>C	ENSP00000447558.1:p.Ser44Thr
ENST00000553198.1:c.131G>C	ENSP00000446929.1:p.Ser44Thr
NM_001136023.2:c.131G>C	NP_001129495.1:p.Ser44Thr
NM_001261461.1:c.131G>C	NP_001248390.1:p.Ser44Thr
NM_006163.2:c.131G>C	NP_006154.1:p.Ser44Thr
XM_005268906.3:c.131G>C	XP_005268963.1:p.Ser44Thr
XM_011538397.1:c.98G>C	XP_011536699.1:p.Ser33Thr
XM_005268906.4:c.131G>C	XP_005268963.1:p.Ser44Thr
NM_001136023.3:c.131G>C MANE Select	NP_001129495.1:p.Ser44Thr
NM_001261461.2:c.131G>C	NP_001248390.1:p.Ser44Thr
NM_006163.3:c.131G>C	NP_006154.1:p.Ser44Thr
NM_001400365.1:c.131G>C	NP_001387294.1:p.Ser44Thr
NM_001400372.1:c.-173G>C	NP_001387301.1:n.-173G>C
NM_001400373.1:c.-173G>C	NP_001387302.1:n.-173G>C