Gene: EFHC1 ENSG00000096093

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

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371068.5	EFHC1-001	5470	640aa	ENSP00000360107.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4942	B2CKC5 Q5JVL4	NM_018100.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000538167.1	EFHC1-202	5445	621aa	ENSP00000444521.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55021	Q5JVL4	NM_001172420.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000433625.2	EFHC1-201	2020	550aa	ENSP00000416492.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H7C4B1	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000480623.1	EFHC1-002	3442	278aa	ENSP00000434498.1	Nonsense mediated decay		Q5JVL4	-	-
ENST00000491749.1	EFHC1-003	897	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000481466.1	EFHC1-004	607	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: EFHC1 ENSG00000096093

Summary