Canonical Allele Identifier: CA9390537

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 259480
• ClinVar RCV Id: RCV000243599 ; RCV000332751 ; RCV001272289 ; RCV000712418 ; RCV002294136
• dbSNP Id: rs140808195
• ExAC: 19:36339531 C / T
• gnomAD v2: 19-36339531-C-T
• gnomAD v3: 19-35848629-C-T
• gnomAD v4: 19-35848629-C-T
• MyVariant Identifiers: chr19:g.36339531C>T (hg19) ; chr19:g.35848629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848629C>T , CM000681.2:g.35848629C>T	GRCh38
NC_000019.9:g.36339531C>T , CM000681.1:g.36339531C>T	GRCh37
NC_000019.8:g.41031371C>T	NCBI36
NG_013356.2:g.25659G>A , LRG_693:g.25659G>A
NG_051206.1:g.1995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1170+8G>A MANE Select	ENSP00000368190.4:n.1170+8G>A
ENST00000353632.6:c.1170+8G>A	ENSP00000343634.5:n.1170+8G>A
ENST00000378910.9:c.1170+8G>A	ENSP00000368190.4:n.1170+8G>A
ENST00000592132.1:n.177+8G>A
NM_004646.3:c.1170+8G>A , LRG_693t1:c.1170+8G>A	NP_004637.1:n.1170+8G>A
NM_004646.4:c.1170+8G>A MANE Select	NP_004637.1:n.1170+8G>A