Canonical Allele Identifier: CA250310

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 188761
• ClinVar RCV Id: RCV000169078 ; RCV001195706 ; RCV001328320 ; RCV001222912 ; RCV003390881
• dbSNP Id: rs138656762
• ExAC: 19:36330320 C / A
• gnomAD v2: 19-36330320-C-A
• gnomAD v3: 19-35839418-C-A
• gnomAD v4: 19-35839418-C-A
• MyVariant Identifiers: chr19:g.36330320C>A (hg19) ; chr19:g.35839418C>A (hg38)
• PubMed: PMID:18614772 ; PMID:19812541 ; PMID:20172850 ; PMID:20507940 ; PMID:21415313 ; PMID:24742477 ; PMID:24902943 ; PMID:27019444

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35839418C>A , CM000681.2:g.35839418C>A	GRCh38
NC_000019.9:g.36330320C>A , CM000681.1:g.36330320C>A	GRCh37
NC_000019.8:g.41022160C>A	NCBI36
NG_013356.2:g.34870G>T , LRG_693:g.34870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2928G>T MANE Select	ENSP00000368190.4:p.Arg976Ser
ENST00000353632.6:c.2928G>T	ENSP00000343634.5:p.Arg976Ser
ENST00000378910.9:c.2928G>T	ENSP00000368190.4:p.Arg976Ser
NM_004646.3:c.2928G>T , LRG_693t1:c.2928G>T	NP_004637.1:p.Arg976Ser
NM_004646.4:c.2928G>T MANE Select	NP_004637.1:p.Arg976Ser