Canonical Allele Identifier: CA250148
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56453
dbSNP Id: rs386833895

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845430C>A , CM000681.2:g.35845430C>A GRCh38
NC_000019.9:g.36336332C>A , CM000681.1:g.36336332C>A GRCh37
NC_000019.8:g.41028172C>A NCBI36
NG_013356.2:g.28858G>T , LRG_693:g.28858G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1868G>T MANE Select ENSP00000368190.4:p.Cys623Phe
ENST00000353632.6:c.1868G>T ENSP00000343634.5:p.Cys623Phe
ENST00000378910.9:c.1868G>T ENSP00000368190.4:p.Cys623Phe
ENST00000585400.1:n.81G>T
NM_004646.3:c.1868G>T , LRG_693t1:c.1868G>T NP_004637.1:p.Cys623Phe
NM_004646.4:c.1868G>T MANE Select NP_004637.1:p.Cys623Phe