Canonical Allele Identifier: CA117446

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 5360
• ClinVar RCV Id: RCV000005691 ; RCV000414576 ; RCV001003814 ; RCV001171338 ; RCV001328321 ; RCV001275640 ; RCV003944802
• dbSNP Id: rs74315342
• ExAC: 1:179530462 C / T
• gnomAD v2: 1-179530462-C-T
• gnomAD v3: 1-179561327-C-T
• gnomAD v4: 1-179561327-C-T
• MyVariant Identifiers: chr1:g.179530462C>T (hg19) ; chr1:g.179561327C>T (hg38)
• PubMed: PMID:8589695 ; PMID:10742096 ; PMID:11729243 ; PMID:11854170 ; PMID:12649741 ; PMID:14570703 ; PMID:14675423 ; PMID:14978175 ; PMID:15253708 ; PMID:18216321 ; PMID:18443213 ; PMID:19371226 ; PMID:19406966 ; PMID:20947785 ; PMID:21171529 ; PMID:21415313 ; PMID:23891399 ; PMID:24089165 ; PMID:24500309

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561327C>T , CM000663.2:g.179561327C>T	GRCh38
NC_000001.10:g.179530462C>T , CM000663.1:g.179530462C>T	GRCh37
NC_000001.9:g.177797085C>T	NCBI36
NG_007535.1:g.19623G>A , LRG_887:g.19623G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.413G>A MANE Select	ENSP00000356587.4:p.Arg138Gln
ENST00000367615.8:c.413G>A	ENSP00000356587.4:p.Arg138Gln
ENST00000367616.4:c.413G>A	ENSP00000356588.4:p.Arg138Gln
NM_001297575.1:c.413G>A	NP_001284504.1:p.Arg138Gln
NM_014625.3:c.413G>A , LRG_887t1:c.413G>A	NP_055440.1:p.Arg138Gln
XM_005245483.2:c.275-1566G>A	XP_005245540.1:n.275-1566G>A
XM_006711529.2:c.413G>A	XP_006711592.1:p.Arg138Gln
XM_005245483.3:c.275-1566G>A	XP_005245540.1:n.275-1566G>A
XM_017002298.1:c.379-1566G>A	XP_016857787.1:n.379-1566G>A
XM_017002299.1:c.413G>A	XP_016857788.1:p.Arg138Gln
NM_001297575.2:c.413G>A	NP_001284504.1:p.Arg138Gln
NM_014625.4:c.413G>A MANE Select	NP_055440.1:p.Arg138Gln