Canonical Allele Identifier: CA250315

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 189074
• ClinVar RCV Id: RCV000169477 ; RCV001220457
• dbSNP Id: rs150855173
• ExAC: 19:36321994 G / A
• gnomAD v2: 19-36321994-G-A
• gnomAD v3: 19-35831092-G-A
• gnomAD v4: 19-35831092-G-A
• MyVariant Identifiers: chr19:g.36321994G>A (hg19) ; chr19:g.35831092G>A (hg38)
• PubMed: PMID:11317351 ; PMID:11562357 ; PMID:20172850 ; PMID:23949594

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35831092G>A , CM000681.2:g.35831092G>A	GRCh38
NC_000019.9:g.36321994G>A , CM000681.1:g.36321994G>A	GRCh37
NC_000019.8:g.41013834G>A	NCBI36
NG_013356.2:g.43196C>T , LRG_693:g.43196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3442C>T MANE Select	ENSP00000368190.4:p.Gln1148Ter
ENST00000353632.6:c.3322C>T	ENSP00000343634.5:p.Gln1108Ter
ENST00000378910.9:c.3442C>T	ENSP00000368190.4:p.Gln1148Ter
NM_004646.3:c.3442C>T , LRG_693t1:c.3442C>T	NP_004637.1:p.Gln1148Ter
NM_004646.4:c.3442C>T MANE Select	NP_004637.1:p.Gln1148Ter