Canonical Allele Identifier: CA117462
Gene: NPHS2 HGNC NCBI
COSMIC:
COSM3750647 (not active)
MyVariant.info:
GRCh38 chr1:g.179557079C>T
GRCh37 chr1:g.179526214C>T
Revel Score:
ENST00000367615 (MANE Select) 0.580
gnomAD v2:
1:179526214 C / T
gnomAD v3:
1:179557079 C / T
gnomAD v4:
chr1-179557079-C-T
Joint Max Group AF 0.03727293 (NFE)
Genomes Max Group AF 0.03617382 (NFE)
Exomes Max Group AF 0.0372754 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179557079C>T , CM000663.2:g.179557079C>T GRCh38
NC_000001.10:g.179526214C>T , CM000663.1:g.179526214C>T GRCh37
NC_000001.9:g.177792837C>T NCBI36
NG_007535.1:g.23871G>A , LRG_887:g.23871G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.686G>A MANE Select ENSP00000356587.4:p.Arg229Gln
ENST00000367615.8:c.686G>A ENSP00000356587.4:p.Arg229Gln
ENST00000367616.4:c.535-2548G>A ENSP00000356588.4:n.535-2548G>A
NM_001297575.1:c.535-2548G>A NP_001284504.1:n.535-2548G>A
NM_014625.3:c.686G>A , LRG_887t1:c.686G>A NP_055440.1:p.Arg229Gln
XM_005245483.2:c.509G>A XP_005245540.1:p.Arg170Gln
XM_006711529.2:c.686G>A XP_006711592.1:p.Arg229Gln
XM_005245483.3:c.509G>A XP_005245540.1:p.Arg170Gln
XM_017002298.1:c.461+2600G>A XP_016857787.1:n.461+2600G>A
XM_017002299.1:c.534+2600G>A XP_016857788.1:n.534+2600G>A
NM_001297575.2:c.535-2548G>A NP_001284504.1:n.535-2548G>A
NM_014625.4:c.686G>A MANE Select NP_055440.1:p.Arg229Gln
Search 100 bp 5'
Search 100 bp 3'