Ellis van Creveld syndrome [Source:HGNC Symbol;Acc:3497]
DWF-1, EVC1, EVCL
Chromosome 4: 5,795,335-5,803,534 forward strand.
This transcript has 4 exons, is associated with 4765 variant alleles and maps to 108 oligo probes.
This transcript is a product of gene ENSG00000072840.8 Show transcript tableHide transcript table
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 | - | - | - |