Canonical Allele Identifier: CA067719

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 222761
• ClinVar RCV Id: RCV000208010 ; RCV000675181 ; RCV000955035
• dbSNP Id: rs114896482
• ExAC: 19:36333389 G / A
• gnomAD v2: 19-36333389-G-A
• gnomAD v3: 19-35842487-G-A
• gnomAD v4: 19-35842487-G-A
• COSMIC: COSM1166237
• MyVariant Identifiers: chr19:g.36333389G>A (hg19) ; chr19:g.35842487G>A (hg38)
• PubMed: PMID:15086927

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842487G>A , CM000681.2:g.35842487G>A	GRCh38
NC_000019.9:g.36333389G>A , CM000681.1:g.36333389G>A	GRCh37
NC_000019.8:g.41025229G>A	NCBI36
NG_013356.2:g.31801C>T , LRG_693:g.31801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2398C>T MANE Select	ENSP00000368190.4:p.Arg800Cys
ENST00000353632.6:c.2398C>T	ENSP00000343634.5:p.Arg800Cys
ENST00000378910.9:c.2398C>T	ENSP00000368190.4:p.Arg800Cys
NM_004646.3:c.2398C>T , LRG_693t1:c.2398C>T	NP_004637.1:p.Arg800Cys
NM_004646.4:c.2398C>T MANE Select	NP_004637.1:p.Arg800Cys