ENST00000305286.8 EFCAB3

Information
Transcript ID
ENST00000305286.8
Genome
hg38
Position
chr17:62,380,553-62,416,480
Strand
+
CDS length
1,317
Amino acid length
439
Gene symbol
EFCAB3
Gene type
protein-coding
Gene description
EF-hand calcium binding domain 3
Gene Entrez Gene ID
146779
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 62,380,553 62,380,613
2 62,382,963 62,383,053
3 62,387,340 62,387,416
4 62,391,822 62,391,965
5 62,393,573 62,393,644
6 62,395,068 62,395,188
7 62,406,480 62,406,673
8 62,407,028 62,407,212
9 62,413,732 62,413,854
10 62,416,003 62,416,480
CDS
Exon number Type Start Stop
2 CDS 62,382,980 62,383,053
3 CDS 62,387,340 62,387,416
4 CDS 62,391,822 62,391,965
5 CDS 62,393,573 62,393,644
6 CDS 62,395,068 62,395,188
7 CDS 62,406,480 62,406,673
8 CDS 62,407,028 62,407,212
9 CDS 62,413,732 62,413,854
10 CDS 62,416,003 62,416,329
Other genome
Genome Chromosome Start End Links
hg19 chr17 60,457,914 60,493,841 Link
CDS sequence
ATGGCAGTTTCAGAAATTAAACCAAAACTTAAGCTGAATCCTCTAACAAAAGTACCCATCTCCCACAATAAAAGGGATAGAGACTTACCAGGATCTCTTCAATGCCAATTACAACACAAAGAAAAGAAGCTAAGTGCTTCACAAATGGCAGCTTTCCAAGATGCCTACAACTTCTTCTACAAGGACAAAACTGGCTGTATTGATTTCCATGGACTGATGTGCACTGTAGCTAAGCTGGGAATGAATCTGACCAAGCATGATGTCTATAATGAATTGAAATGTGCTGATATTGATCGAGATGGGAAGGTGAACTTCTCAGACTTTATCAAGGTTCTAACAGATAAGAATCTCTTCCTCAAGGCAGTGGTTCCAGAAAAGGAGACCTGTTTAGATTTGGCTGGCAACCCAGGAATCCTATTGTTTGAAATCCTATCAAGGCTTCTAGAGACTTCAGCCCTACCCAGAAAGTCTATAATAGAAATAGTAAGCTATTTCCAAAGAAAATTCCAGCATACTGGCCCAGGAATGTTGTGGAGTCCCTACACTATGGGCTATGGAAAAAGGACACTTAAGCCAGACATATGCACACCTCCAAGCTCAAGCATGGCTGCCTTTGCTAATGCTGCCCGGATTGCAATAATGAAAGAAAAGGATTTATTTAAATTTCTTGAAGAGCTCAAGAGATGCAATTCCGGTTCAGATAGCCCATATTCAAAAATACCCATCTTTCCATTGTTCCCTAATGTGGATGGGGTGGTGATGGGAAAGCCATTCAAAGACATGCAGAAATTAGAGATGCTAAGAATAAAGGAGCCTTTGCATTTCTTTGAGGATTATTTTTTCCATAAAAGAGACTGGAAAACACAGGCAGCAAATATAAAGTCTATGGACCCTGCCTCAGGTTATTCAAATAACATCTTCACCATTGATCAAATGCTCAAGAAAAAGCAGACTTGTACAGTGGCCGATGCAACTGCTATTAAACAACATGTGAAGAGAGCTACTGATACCTATAATTTAGGAATTGCCCTTGAACACCGAAAAGAGATGCTAAACCTCTGGCAGAAGATCCGAGGGGATTTGATTGGGATGGACTCTAGAAATGAGTCCTTTTATGACACCTTTTCTACTTATACATGGTCCTGGAATGTTTGCCAAGAATTACTTTCTCCTAAGGACTTAAGGTTATATGATGCCTATGTGAATAGAAATTCCTCCCATAACTCCAGATCCTCTTCCTCATCAGATACCAGTGAATGTTACACAGACTCAGGAAGAAAAAGAAAACGGAAAGGTTTAAAGGGATTTCAACAATGA
Amino sequence
MAVSEIKPKLKLNPLTKVPISHNKRDRDLPGSLQCQLQHKEKKLSASQMAAFQDAYNFFYKDKTGCIDFHGLMCTVAKLGMNLTKHDVYNELKCADIDRDGKVNFSDFIKVLTDKNLFLKAVVPEKETCLDLAGNPGILLFEILSRLLETSALPRKSIIEIVSYFQRKFQHTGPGMLWSPYTMGYGKRTLKPDICTPPSSSMAAFANAARIAIMKEKDLFKFLEELKRCNSGSDSPYSKIPIFPLFPNVDGVVMGKPFKDMQKLEMLRIKEPLHFFEDYFFHKRDWKTQAANIKSMDPASGYSNNIFTIDQMLKKKQTCTVADATAIKQHVKRATDTYNLGIALEHRKEMLNLWQKIRGDLIGMDSRNESFYDTFSTYTWSWNVCQELLSPKDLRLYDAYVNRNSSHNSRSSSSSDTSECYTDSGRKRKRKGLKGFQQ*