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Human (GRCh37.p13)
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 5 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
EVC-201ENST00000382674.27063992aaENSP00000372120.2
 
Protein coding
CCDS3383P57679 Q4W5A3 Q4W5F2
-GENCODE basic
EVC-001ENST00000264956.66431992aaENSP00000264956.6
 
Protein coding
CCDS3383P57679 Q4W5A3 Q4W5F2
NM_153717
NP_714928
GENCODE basic
EVC-002ENST00000509451.11960535aaENSP00000426774.1
 
Protein coding
-E9PCN4 Q4W5A3 -GENCODE basic
EVC-006ENST00000515113.1586No protein-
 
Processed transcript
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EVC-004ENST00000514919.1523No protein-
 
Processed transcript
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EVC-005ENST00000506240.1588No protein-
 
Retained intron
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Gene-based displays