Description
EF-hand domain (C-terminal) containing 1 [Source:HGNC Symbol;Acc:16406]
Gene Synonyms
dJ304B14.2
Location
Chromosome 6: 52,285,106-52,387,892 forward strand.
GRCh37:CM000668.1
About this gene
This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000371068.5 | EFHC1-001 | 5470 | 640aa | ENSP00000360107.4 | Protein coding | CCDS4942 | B2CKC5 Q5JVL4 | NM_018100.3 | Ensembl Canonical, GENCODE Basic, |
| ENST00000538167.1 | EFHC1-202 | 5445 | 621aa | ENSP00000444521.1 | Protein coding | CCDS55021 | Q5JVL4 | NM_001172420.1 | GENCODE Basic, |
| ENST00000433625.2 | EFHC1-201 | 2020 | 550aa | ENSP00000416492.2 | Protein coding | H7C4B1 | - | GENCODE Basic, | |
| ENST00000480623.1 | EFHC1-002 | 3442 | 278aa | ENSP00000434498.1 | Nonsense mediated decay | Q5JVL4 | - | - | |
| ENST00000491749.1 | EFHC1-003 | 897 | No protein | - | Processed transcript | - | - | - | |
| ENST00000481466.1 | EFHC1-004 | 607 | No protein | - | Processed transcript | - | - | - |
