Canonical Allele Identifier: CA250309

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 188734
• ClinVar RCV Id: RCV000169038 ; RCV000599036
• dbSNP Id: rs150038620
• ExAC: 19:36333453 C / T
• gnomAD v2: 19-36333453-C-T
• gnomAD v3: 19-35842551-C-T
• gnomAD v4: 19-35842551-C-T
• MyVariant Identifiers: chr19:g.36333453C>T (hg19) ; chr19:g.35842551C>T (hg38)
• PubMed: PMID:9915943 ; PMID:11854170 ; PMID:20507940 ; PMID:23949594

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842551C>T , CM000681.2:g.35842551C>T	GRCh38
NC_000019.9:g.36333453C>T , CM000681.1:g.36333453C>T	GRCh37
NC_000019.8:g.41025293C>T	NCBI36
NG_013356.2:g.31737G>A , LRG_693:g.31737G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.2335-1G>A MANE Select	ENSP00000368190.4:n.2335-1G>A
ENST00000353632.6:c.2335-1G>A	ENSP00000343634.5:n.2335-1G>A
ENST00000378910.9:c.2335-1G>A	ENSP00000368190.4:n.2335-1G>A
NM_004646.3:c.2335-1G>A , LRG_693t1:c.2335-1G>A	NP_004637.1:n.2335-1G>A
NM_004646.4:c.2335-1G>A MANE Select	NP_004637.1:n.2335-1G>A