Description
nephrosis 1, congenital, Finnish type (nephrin) [Source:HGNC Symbol;Acc:7908]
Gene Synonyms
CNF, NPHN, nephrin
Location
Chromosome 19: 36,316,866-36,360,189 reverse strand.
GRCh37:CM000681.1
About this gene
This gene has 5 transcripts (splice variants), 3 paralogues and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000378910.5 | NPHS1-001 | 4276 | 1241aa | ENSP00000368190.4 | Protein coding | CCDS32996 | O60500 | NM_004646.3 | GENCODE basic, |
ENST00000353632.6 | NPHS1-002 | 3741 | 1201aa | ENSP00000343634.5 | Protein coding | O60500 | - | GENCODE basic, | |
ENST00000591817.1 | NPHS1-005 | 581 | No protein | - | Processed transcript | - | - | - | |
ENST00000585400.1 | NPHS1-003 | 999 | No protein | - | Retained intron | - | - | - | |
ENST00000592132.1 | NPHS1-004 | 561 | No protein | - | Retained intron | - | - | - |