Canonical Allele Identifier: CA307827427
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1049633693
gnomAD v3: 19-35826552-C-T
gnomAD v4: 19-35826552-C-T
COSMIC: COSM3938035
MyVariant Identifiers: chr19:g.36317454C>T (hg19) chr19:g.35826552C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826552C>T , CM000681.2:g.35826552C>T GRCh38
NC_000019.9:g.36317454C>T , CM000681.1:g.36317454C>T GRCh37
NC_000019.8:g.41009294C>T NCBI36
NG_013356.2:g.47736G>A , LRG_693:g.47736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3688G>A MANE Select ENSP00000368190.4:p.Asp1230Asn
ENST00000353632.6:c.3568G>A ENSP00000343634.5:p.Asp1190Asn
ENST00000378910.9:c.3688G>A ENSP00000368190.4:p.Asp1230Asn
NM_004646.3:c.3688G>A , LRG_693t1:c.3688G>A NP_004637.1:p.Asp1230Asn
NM_004646.4:c.3688G>A MANE Select NP_004637.1:p.Asp1230Asn
Search 100 bp 5'
Search 100 bp 3'