Human (GRCh37.p13)
Description

hephaestin [Source:HGNC Symbol;Acc:4866]

Gene Synonyms

CPL, KIAA0698

Location
About this transcript

This transcript has 21 exons, is annotated with 25 domains and features, is associated with 42996 variant alleles and maps to 631 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000519389.1HEPH-00160131212aaENSP00000430620.1
 
Protein coding
CCDS14384B4DFV3 Q1HE23 Q5JZ07
Q9BQS7
-GENCODE basic
ENST00000343002.2HEPH-00248541158aaENSP00000343939.2
 
Protein coding
B4DFV3 Q1HE23 Q5JZ07
Q9BQS7
-GENCODE basic
ENST00000374727.3HEPH-20144901161aaENSP00000363859.3
 
Protein coding
B4DFV3 Q1HE23 Q5JZ07
Q9BQS7
NM_138737.3GENCODE basic
ENST00000441993.2HEPH-00843101160aaENSP00000411687.2
 
Protein coding
CCDS48133Q5JZ07 Q9BQS7 NM_001130860.2GENCODE basic
ENST00000336279.5HEPH-0034228891aaENSP00000337418.5
 
Protein coding
CCDS14385B4DFV3 Q9BQS7 NM_014799.2GENCODE basic
ENST00000419594.1HEPH-0073694969aaENSP00000413211.1
 
Protein coding
CCDS65277E7ES21 Q5JZ07 NM_001282141.1GENCODE basic
ENST00000425114.1HEPH-0042459811aaENSP00000398078.1
 
Protein coding
Q5JZ07 Q5JZ08 -CDS 3' incomplete
ENST00000458621.1HEPH-005838208aaENSP00000396907.1
 
Protein coding
Q5JZ07 -CDS 3' incomplete
ENST00000429547.1HEPH-00956963aaENSP00000392319.1
 
Nonsense mediated decay
F8WBZ8 --
ENST00000471121.1HEPH-010802No protein-
 
Retained intron
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Statistics

Exons: 21, Coding exons: 20, Transcript length: 4,310 bps, Translation length: 1,160 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9BQS7

CCDS

This transcript is a member of the Human CCDS set: CCDS48133

Version

ENST00000441993.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000346499 (version 1)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.