Canonical Allele Identifier: CA507085252
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1119545
ClinVar RCV Id: RCV001449013
dbSNP Id: rs1973182568
gnomAD v4: 19-35848733-T-C
MyVariant Identifiers: chr19:g.36339635T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848733T>C , CM000681.2:g.35848733T>C GRCh38
NC_000019.9:g.36339635T>C , CM000681.1:g.36339635T>C GRCh37
NC_000019.8:g.41031475T>C NCBI36
NG_013356.2:g.25555A>G , LRG_693:g.25555A>G
NG_051206.1:g.2099T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1074A>G MANE Select ENSP00000368190.4:p.Thr358=
ENST00000353632.6:c.1074A>G ENSP00000343634.5:p.Thr358=
ENST00000378910.9:c.1074A>G ENSP00000368190.4:p.Thr358=
ENST00000592132.1:n.81A>G
NM_004646.3:c.1074A>G , LRG_693t1:c.1074A>G NP_004637.1:p.Thr358=
NM_004646.4:c.1074A>G MANE Select NP_004637.1:p.Thr358=
Search 100 bp 5'
Search 100 bp 3'