Canonical Allele Identifier: CA250037

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 6873
• ClinVar RCV Id: RCV000007276 ; RCV000808977 ; RCV001328091
• dbSNP Id: rs267606919
• ExAC: 19:36321958 G / A
• gnomAD v2: 19-36321958-G-A
• gnomAD v3: 19-35831056-G-A
• gnomAD v4: 19-35831056-G-A
• MyVariant Identifiers: chr19:g.36321958G>A (hg19) ; chr19:g.35831056G>A (hg38)
• PubMed: PMID:9915943 ; PMID:11854170 ; PMID:14570703 ; PMID:16518627 ; PMID:18503012 ; PMID:20172850 ; PMID:22565185

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35831056G>A , CM000681.2:g.35831056G>A	GRCh38
NC_000019.9:g.36321958G>A , CM000681.1:g.36321958G>A	GRCh37
NC_000019.8:g.41013798G>A	NCBI36
NG_013356.2:g.43232C>T , LRG_693:g.43232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3478C>T MANE Select	ENSP00000368190.4:p.Arg1160Ter
ENST00000353632.6:c.3358C>T	ENSP00000343634.5:p.Arg1120Ter
ENST00000378910.9:c.3478C>T	ENSP00000368190.4:p.Arg1160Ter
NM_004646.3:c.3478C>T , LRG_693t1:c.3478C>T	NP_004637.1:p.Arg1160Ter
NM_004646.4:c.3478C>T MANE Select	NP_004637.1:p.Arg1160Ter