Canonical Allele Identifier: CA9390705

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 2191394
• ClinVar RCV Id: RCV002632788
• dbSNP Id: rs112624813
• ExAC: 19:36340499 G / A
• gnomAD v2: 19-36340499-G-A
• gnomAD v3: 19-35849597-G-A
• gnomAD v4: 19-35849597-G-A
• MyVariant Identifiers: chr19:g.36340499G>A (hg19) ; chr19:g.35849597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849597G>A , CM000681.2:g.35849597G>A	GRCh38
NC_000019.9:g.36340499G>A , CM000681.1:g.36340499G>A	GRCh37
NC_000019.8:g.41032339G>A	NCBI36
NG_013356.2:g.24691C>T , LRG_693:g.24691C>T
NG_051206.1:g.2963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.665C>T MANE Select	ENSP00000368190.4:p.Pro222Leu
ENST00000353632.6:c.665C>T	ENSP00000343634.5:p.Pro222Leu
ENST00000378910.9:c.665C>T	ENSP00000368190.4:p.Pro222Leu
NM_004646.3:c.665C>T , LRG_693t1:c.665C>T	NP_004637.1:p.Pro222Leu
NM_004646.4:c.665C>T MANE Select	NP_004637.1:p.Pro222Leu