Canonical Allele Identifier: CA632775040
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1125715
ClinVar RCV Id: RCV001457521
dbSNP Id: rs1218815463
gnomAD v2: 19-36317552-C-T
gnomAD v4: 19-35826650-C-T
MyVariant Identifiers: chr19:g.36317552C>T (hg19) chr19:g.35826650C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826650C>T , CM000681.2:g.35826650C>T GRCh38
NC_000019.9:g.36317552C>T , CM000681.1:g.36317552C>T GRCh37
NC_000019.8:g.41009392C>T NCBI36
NG_013356.2:g.47638G>A , LRG_693:g.47638G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3595-5G>A MANE Select ENSP00000368190.4:n.3595-5G>A
ENST00000353632.6:c.3475-5G>A ENSP00000343634.5:n.3475-5G>A
ENST00000378910.9:c.3595-5G>A ENSP00000368190.4:n.3595-5G>A
NM_004646.3:c.3595-5G>A , LRG_693t1:c.3595-5G>A NP_004637.1:n.3595-5G>A
NM_004646.4:c.3595-5G>A MANE Select NP_004637.1:n.3595-5G>A
Search 100 bp 5'
Search 100 bp 3'