Canonical Allele Identifier: CA199046

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 188730
• ClinVar RCV Id: RCV000169033 ; RCV000517983 ; RCV001273618 ; RCV001328093 ; RCV003407626
• dbSNP Id: rs530318579
• ExAC: 1:179528845 C / T
• gnomAD v2: 1-179528845-C-T
• gnomAD v3: 1-179559710-C-T
• gnomAD v4: 1-179559710-C-T
• COSMIC: COSM2095456
• MyVariant Identifiers: chr1:g.179528845C>T (hg19) ; chr1:g.179559710C>T (hg38)
• PubMed: PMID:14675423 ; PMID:14978175 ; PMID:15042551 ; PMID:15253708 ; PMID:15322893 ; PMID:16810518 ; PMID:17899208 ; PMID:18216321 ; PMID:19067903 ; PMID:19371226 ; PMID:19674119 ; PMID:20507940 ; PMID:20798252 ; PMID:23013956 ; PMID:26211502 ; PMID:26467726

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