Canonical Allele Identifier: CA1267178
Gene: NPHS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179557179G>C
GRCh37 chr1:g.179526314G>C
Revel Score:
ENST00000367615 (MANE Select) 0.952
gnomAD v2:
1:179526314 G / C
gnomAD v4:
chr1-179557179-G-C
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV004527185
ClinVar Variation:
3233905
dbSNP:
12568913
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179557179G>C , CM000663.2:g.179557179G>C GRCh38
NC_000001.10:g.179526314G>C , CM000663.1:g.179526314G>C GRCh37
NC_000001.9:g.177792937G>C NCBI36
NG_007535.1:g.23771C>G , LRG_887:g.23771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.586C>G MANE Select ENSP00000356587.4:p.Arg196Gly
ENST00000367615.8:c.586C>G ENSP00000356587.4:p.Arg196Gly
ENST00000367616.4:c.534+2500C>G ENSP00000356588.4:n.534+2500C>G
NM_001297575.1:c.534+2500C>G NP_001284504.1:n.534+2500C>G
NM_014625.3:c.586C>G , LRG_887t1:c.586C>G NP_055440.1:p.Arg196Gly
XM_005245483.2:c.409C>G XP_005245540.1:p.Arg137Gly
XM_006711529.2:c.586C>G XP_006711592.1:p.Arg196Gly
XM_005245483.3:c.409C>G XP_005245540.1:p.Arg137Gly
XM_017002298.1:c.461+2500C>G XP_016857787.1:n.461+2500C>G
XM_017002299.1:c.534+2500C>G XP_016857788.1:n.534+2500C>G
NM_001297575.2:c.534+2500C>G NP_001284504.1:n.534+2500C>G
NM_014625.4:c.586C>G MANE Select NP_055440.1:p.Arg196Gly
Search 100 bp 5'
Search 100 bp 3'