Canonical Allele Identifier: CA117456
Gene: NPHS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179559734T>C
GRCh37 chr1:g.179528869T>C
Revel Score:
ENST00000367615 (MANE Select) 0.961
ENST00000367616 0.961
ClinVar RCV:
RCV000005698
ClinVar Variation:
5367
dbSNP:
74315346
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559734T>C , CM000663.2:g.179559734T>C GRCh38
NC_000001.10:g.179528869T>C , CM000663.1:g.179528869T>C GRCh37
NC_000001.9:g.177795492T>C NCBI36
NG_007535.1:g.21216A>G , LRG_887:g.21216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.479A>G MANE Select ENSP00000356587.4:p.Asp160Gly
ENST00000367615.8:c.479A>G ENSP00000356587.4:p.Asp160Gly
ENST00000367616.4:c.479A>G ENSP00000356588.4:p.Asp160Gly
NM_001297575.1:c.479A>G NP_001284504.1:p.Asp160Gly
NM_014625.3:c.479A>G , LRG_887t1:c.479A>G NP_055440.1:p.Asp160Gly
XM_005245483.2:c.302A>G XP_005245540.1:p.Asp101Gly
XM_006711529.2:c.479A>G XP_006711592.1:p.Asp160Gly
XM_005245483.3:c.302A>G XP_005245540.1:p.Asp101Gly
XM_017002298.1:c.406A>G XP_016857787.1:p.Ile136Val
XM_017002299.1:c.479A>G XP_016857788.1:p.Asp160Gly
NM_001297575.2:c.479A>G NP_001284504.1:p.Asp160Gly
NM_014625.4:c.479A>G MANE Select NP_055440.1:p.Asp160Gly
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