Canonical Allele Identifier: CA4194006
Gene: NFE2L3 HGNC NCBI
HNRNPA2B1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.26185029A>T
GRCh38 chr7:g.26185029_26185038delinsTAGGTGCTAT
GRCh37 chr7:g.26224649A>T
GRCh37 chr7:g.26224649_26224658delinsTAGGTGCTAT
Revel Score:
ENST00000056233 (MANE Select) 0.129
ENST00000398175 0.129
gnomAD v2:
7:26224649 A / T
gnomAD v3:
7:26185029 A / T
gnomAD v4:
chr7-26185029-A-T
Joint Max Group AF 0.00010203 (AMR)
Genomes Max Group AF 0.00026046 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar Allele:
2205410
ClinVar RCV:
RCV004082355
ClinVar Variation:
2214626
dbSNP:
760011009
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.26185029A>T , CM000669.2:g.26185029A>T GRCh38
NC_000007.13:g.26224649A>T , CM000669.1:g.26224649A>T GRCh37
NC_000007.12:g.26191174A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000056233.4:c.1331A>T (NFE2L3) MANE Select ENSP00000056233.3:p.Glu444Val
ENST00000608362.2:c.*21+7466T>A (HNRNPA2B1) ENSP00000497298.1:n.*21+7466T>A
ENST00000676749.1:c.*272T>A (HNRNPA2B1) ENSP00000504799.1:n.*272T>A
ENST00000676903.1:c.*157+5964T>A (HNRNPA2B1) ENSP00000504660.1:n.*157+5964T>A
ENST00000677339.1:c.*1367+5964T>A (HNRNPA2B1) ENSP00000503242.1:n.*1367+5964T>A
ENST00000677631.1:c.*102+170T>A (HNRNPA2B1) ENSP00000503452.1:n.*102+170T>A
ENST00000678501.1:c.*1523+5964T>A (HNRNPA2B1) ENSP00000503961.1:n.*1523+5964T>A
ENST00000679318.1:c.*21+7466T>A (HNRNPA2B1) ENSP00000504571.1:n.*21+7466T>A
ENST00000056233.3:c.1331A>T (NFE2L3) ENSP00000056233.3:p.Glu444Val
ENST00000606261.1:n.970A>T (NFE2L3)
NM_004289.6:c.1331A>T (NFE2L3) NP_004280.5:p.Glu444Val
XR_927125.1:n.88+170T>A
NM_004289.7:c.1331A>T (NFE2L3) MANE Select NP_004280.5:p.Glu444Val
Search 100 bp 5'
Search 100 bp 3'