Canonical Allele Identifier: CA199046
Gene: NPHS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179559710C>T
GRCh37 chr1:g.179528845C>T
Revel Score:
ENST00000367615 (MANE Select) 0.948
ENST00000367616 0.948
gnomAD v2:
1:179528845 C / T
gnomAD v3:
1:179559710 C / T
gnomAD v4:
chr1-179559710-C-T
Joint Max Group AF 0.00003008 (EAS)
Exomes Max Group AF 0.00003486 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559710C>T , CM000663.2:g.179559710C>T GRCh38
NC_000001.10:g.179528845C>T , CM000663.1:g.179528845C>T GRCh37
NC_000001.9:g.177795468C>T NCBI36
NG_007535.1:g.21240G>A , LRG_887:g.21240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.503G>A MANE Select ENSP00000356587.4:p.Arg168His
ENST00000367615.8:c.503G>A ENSP00000356587.4:p.Arg168His
ENST00000367616.4:c.503G>A ENSP00000356588.4:p.Arg168His
NM_001297575.1:c.503G>A NP_001284504.1:p.Arg168His
NM_014625.3:c.503G>A , LRG_887t1:c.503G>A NP_055440.1:p.Arg168His
XM_005245483.2:c.326G>A XP_005245540.1:p.Arg109His
XM_006711529.2:c.503G>A XP_006711592.1:p.Arg168His
XM_005245483.3:c.326G>A XP_005245540.1:p.Arg109His
XM_017002298.1:c.430G>A XP_016857787.1:p.Val144Ile
XM_017002299.1:c.503G>A XP_016857788.1:p.Arg168His
NM_001297575.2:c.503G>A NP_001284504.1:p.Arg168His
NM_014625.4:c.503G>A MANE Select NP_055440.1:p.Arg168His
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