Canonical Allele Identifier: CA9390692

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 1518364
• ClinVar RCV Id: RCV002021690 ; RCV002284228 ; RCV002486748
• dbSNP Id: rs373835033
• ExAC: 19:36340454 A / T
• gnomAD v2: 19-36340454-A-T
• gnomAD v3: 19-35849552-A-T
• gnomAD v4: 19-35849552-A-T
• MyVariant Identifiers: chr19:g.36340454A>T (hg19) ; chr19:g.35849552A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849552A>T , CM000681.2:g.35849552A>T	GRCh38
NC_000019.9:g.36340454A>T , CM000681.1:g.36340454A>T	GRCh37
NC_000019.8:g.41032294A>T	NCBI36
NG_013356.2:g.24736T>A , LRG_693:g.24736T>A
NG_051206.1:g.2918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.710T>A MANE Select	ENSP00000368190.4:p.Leu237Gln
ENST00000353632.6:c.710T>A	ENSP00000343634.5:p.Leu237Gln
ENST00000378910.9:c.710T>A	ENSP00000368190.4:p.Leu237Gln
NM_004646.3:c.710T>A , LRG_693t1:c.710T>A	NP_004637.1:p.Leu237Gln
NM_004646.4:c.710T>A MANE Select	NP_004637.1:p.Leu237Gln