Description
Ellis van Creveld syndrome [Source:HGNC Symbol;Acc:3497]
Gene Synonyms
DWF-1, EVC1, EVCL
Location
Chromosome 4: 5,712,924-5,830,772 forward strand.
GRCh37:CM000666.1
About this gene
This gene has 6 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000382674.2 | EVC-201 | 7063 | 992aa | ENSP00000372120.2 | Protein coding | CCDS3383 | P57679 Q4W5A3 Q4W5F2 | - | GENCODE basic, |
ENST00000264956.6 | EVC-001 | 6431 | 992aa | ENSP00000264956.6 | Protein coding | CCDS3383 | P57679 Q4W5A3 Q4W5F2 | NM_153717.2 | GENCODE basic, |
ENST00000509451.1 | EVC-002 | 1960 | 535aa | ENSP00000426774.1 | Protein coding | E9PCN4 Q4W5A3 | - | GENCODE basic, | |
ENST00000515113.1 | EVC-006 | 586 | No protein | - | Processed transcript | - | - | - | |
ENST00000514919.1 | EVC-004 | 523 | No protein | - | Processed transcript | - | - | - | |
ENST00000506240.1 | EVC-005 | 588 | No protein | - | Retained intron | - | - | - |