Canonical Allele Identifier: CA343554473
Gene: NPHS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179575862C>A
GRCh37 chr1:g.179544997C>A
Revel Score:
ENST00000367615 (MANE Select) 0.678
ENST00000367616 0.678
gnomAD v2:
1:179544997 C / A
gnomAD v3:
1:179575862 C / A
gnomAD v4:
chr1-179575862-C-A
Joint Max Group AF 0.00000497 (AFR)
ClinVar RCV:
RCV003574266
ClinVar Variation:
2771430
dbSNP:
1057516680
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575862C>A , CM000663.2:g.179575862C>A GRCh38
NC_000001.10:g.179544997C>A , CM000663.1:g.179544997C>A GRCh37
NC_000001.9:g.177811620C>A NCBI36
NG_007535.1:g.5088G>T , LRG_887:g.5088G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.3G>T MANE Select ENSP00000356587.4:p.Met1Ile
ENST00000367615.8:c.3G>T ENSP00000356587.4:p.Met1Ile
ENST00000367616.4:c.3G>T ENSP00000356588.4:p.Met1Ile
NM_001297575.1:c.3G>T NP_001284504.1:p.Met1Ile
NM_014625.3:c.3G>T , LRG_887t1:c.3G>T NP_055440.1:p.Met1Ile
XM_005245483.2:c.3G>T XP_005245540.1:p.Met1Ile
XM_006711529.2:c.3G>T XP_006711592.1:p.Met1Ile
XM_005245483.3:c.3G>T XP_005245540.1:p.Met1Ile
XM_017002298.1:c.3G>T XP_016857787.1:p.Met1Ile
XM_017002299.1:c.3G>T XP_016857788.1:p.Met1Ile
NM_001297575.2:c.3G>T NP_001284504.1:p.Met1Ile
NM_014625.4:c.3G>T MANE Select NP_055440.1:p.Met1Ile
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