Canonical Allele Identifier: CA250148

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56453
• ClinVar RCV Id: RCV000049866 ; RCV000811777 ; RCV001849305
• dbSNP Id: rs386833895
• ExAC: 19:36336332 C / A
• gnomAD v2: 19-36336332-C-A
• gnomAD v3: 19-35845430-C-A
• gnomAD v4: 19-35845430-C-A
• MyVariant Identifiers: chr19:g.36336332C>A (hg19) ; chr19:g.35845430C>A (hg38)
• PubMed: PMID:9915943 ; PMID:11317351 ; PMID:11726550 ; PMID:11854170 ; PMID:15338398 ; PMID:19812541 ; PMID:20172850 ; PMID:20798252 ; PMID:21415313

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845430C>A , CM000681.2:g.35845430C>A	GRCh38
NC_000019.9:g.36336332C>A , CM000681.1:g.36336332C>A	GRCh37
NC_000019.8:g.41028172C>A	NCBI36
NG_013356.2:g.28858G>T , LRG_693:g.28858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1868G>T MANE Select	ENSP00000368190.4:p.Cys623Phe
ENST00000353632.6:c.1868G>T	ENSP00000343634.5:p.Cys623Phe
ENST00000378910.9:c.1868G>T	ENSP00000368190.4:p.Cys623Phe
ENST00000585400.1:n.81G>T
NM_004646.3:c.1868G>T , LRG_693t1:c.1868G>T	NP_004637.1:p.Cys623Phe
NM_004646.4:c.1868G>T MANE Select	NP_004637.1:p.Cys623Phe