Canonical Allele Identifier: CA250119

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56438
• ClinVar RCV Id: RCV000049851 ; RCV001388275 ; RCV001849302 ; RCV002294008
• dbSNP Id: rs386833880
• ExAC: 19:36339004 C / T
• gnomAD v2: 19-36339004-C-T
• gnomAD v3: 19-35848102-C-T
• gnomAD v4: 19-35848102-C-T
• MyVariant Identifiers: chr19:g.36339004C>T (hg19) ; chr19:g.35848102C>T (hg38)
• PubMed: PMID:11317351 ; PMID:11854170 ; PMID:15780077 ; PMID:18503012 ; PMID:18614772 ; PMID:19194555 ; PMID:20172850 ; PMID:20507940 ; PMID:21415313

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848102C>T , CM000681.2:g.35848102C>T	GRCh38
NC_000019.9:g.36339004C>T , CM000681.1:g.36339004C>T	GRCh37
NC_000019.8:g.41030844C>T	NCBI36
NG_013356.2:g.26186G>A , LRG_693:g.26186G>A
NG_051206.1:g.1468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1379G>A MANE Select	ENSP00000368190.4:p.Arg460Gln
ENST00000353632.6:c.1379G>A	ENSP00000343634.5:p.Arg460Gln
ENST00000378910.9:c.1379G>A	ENSP00000368190.4:p.Arg460Gln
ENST00000592132.1:n.386G>A
NM_004646.3:c.1379G>A , LRG_693t1:c.1379G>A	NP_004637.1:p.Arg460Gln
NM_004646.4:c.1379G>A MANE Select	NP_004637.1:p.Arg460Gln