Gene: HIF1A ENSG00000100644

Description

hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [Source:HGNC Symbol;Acc:4910]

Gene Synonyms

BHLHE78, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78

Location

Chromosome 14: 62,162,231-62,214,976 forward strand.

GRCh37:CM000676.1

About this gene

This gene has 12 transcripts (splice variants), 14 paralogues and is associated with 48 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000539097.1	HIF1A-201	3468	850aa	ENSP00000437955.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS58324	B4E2U7 F8W9L0 Q16665	NM_001243084.1	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000394997.1	HIF1A-003	3922	827aa	ENSP00000378446.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A8MYV6 B4E2U7 F8W9L0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000337138.4	HIF1A-001	3919	826aa	ENSP00000338018.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9753	B4E2U7 D0VY79 F8W9L0 Q16665	NM_001530.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000323441.6	HIF1A-002	3555	735aa	ENSP00000323326.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9754	Q16665	NM_181054.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000557538.1	HIF1A-004	3468	767aa	ENSP00000451696.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4E2U7 F8W9L0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000557206.1	HIF1A-012	767	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000555014.1	HIF1A-011	739	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000553999.1	HIF1A-005	616	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000556237.1	HIF1A-007	595	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000557446.1	HIF1A-008	559	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000556827.1	HIF1A-009	752	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000547430.2	HIF1A-010	711	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: HIF1A ENSG00000100644

Summary